Doenças causadas por função anormal das mitocôndrias. Podem ser causadas por mutações, adquiridas ou herdadas, no DNA mitocondrial ou em genes nucleares que codificam componentes mitocondriais. Eles também podem ser o resultado de disfunção mitocondrial adquirida devido a efeitos adversos de medicamentos, infecções ou outras causas ambientais.
Introdução
O que você precisa saber de cara
A deficiência de ACAD9 é uma condição que varia em gravidade e pode causar fraqueza muscular (miopatia), problemas cardíacos e deficiência intelectual. Quase todas as pessoas com a condição apresentam acúmulo de uma substância química chamada ácido lático no corpo (acidose láctica). Sinais e sintomas adicionais que afetam outros sistemas do corpo ocorrem em casos raros.
Pessoas com a condição levemente afetadas pela deficiência de ACAD9 geralmente apresentam náuseas e fadiga extrema em resposta à atividade física (intolerância ao exercício). Pessoas com a condição que são moderadamente afetadas têm tônus muscular baixo (hipotonia) e fraqueza nos músculos usados para o movimento (músculos esqueléticos). Pessoas com a condição gravemente afetadas apresentam disfunção cerebral combinada com miopatia (encefalomiopatia); essas pessoas geralmente também têm um músculo cardíaco aumentado e enfraquecido (cardiomiopatia hipertrófica), que costuma ser fatal na infância ou na primeira infância.
Pessoas com a condição que sobrevivem além da primeira infância frequentemente têm deficiência intelectual e podem desenvolver convulsões. Sinais e sintomas raros da deficiência de ACAD9 incluem distúrbios do movimento e problemas de função hepática e renal.
Algumas pessoas com a condição tiveram melhora na força muscular e redução nos níveis de ácido lático com o tratamento.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDoenças causadas por função anormal das mitocôndrias. Podem ser causadas por mutações, adquiridas ou herdadas, no DNA mitocondrial ou em genes nucleares que codificam componentes mitocondriais. Eles também podem ser o resultado de disfunção mitocondrial adquirida devido a efeitos adversos de medicamentos, infecções ou outras causas ambientais.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 695 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 1627 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
87 genes identificados com associação a esta condição.
Fumarase deficiency
A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
Combined oxidative phosphorylation deficiency 7
A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early-onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed.
Mitochondrial DNA depletion syndrome 8A
A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Combined oxidative phosphorylation deficiency 29
An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.
Coenzyme Q10 deficiency, primary, 7
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
Spastic ataxia 3, autosomal recessive
A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
Combined oxidative phosphorylation deficiency 30
An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV.
Combined oxidative phosphorylation deficiency 31
An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy.
Mitochondrial complex V deficiency, mitochondrial 2
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
Glutaric aciduria 2C
An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
Glutaric aciduria 2A
An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
Mitochondrial complex I deficiency, nuclear type 25
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 7
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance.
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation.
D-bifunctional protein deficiency
Disorder of peroxisomal fatty acid beta-oxidation.
Combined oxidative phosphorylation deficiency 6
A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Lipoyltransferase 1 deficiency
An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension.
Mitochondrial complex III deficiency, nuclear type 7
A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.
Mitochondrial complex III deficiency, nuclear type 5
A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Adenosine monophosphate deaminase deficiency erythrocyte type
A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.
Pyruvate dehydrogenase E1-beta deficiency
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Neuropathy, ataxia, and retinitis pigmentosa
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Combined oxidative phosphorylation deficiency 40
An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy.
Combined oxidative phosphorylation deficiency 9
A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.
Combined oxidative phosphorylation deficiency 8
A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial complex IV deficiency, nuclear type 20
An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex I deficiency, nuclear type 4
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial DNA depletion syndrome 3
A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.
Mitochondrial DNA depletion syndrome 21
An autosomal recessive mitochondrial disorder characterized by ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Multiple mtDNA deletions and depletion are detected in muscle, as well as mitochondrial respiratory chain deficiencies.
Mitochondrial DNA depletion syndrome 1, MNGIE type
A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
Pyruvate dehydrogenase E3-binding protein deficiency
A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation.
Dihydrolipoamide dehydrogenase deficiency
An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.
Pyruvate dehydrogenase E1-alpha deficiency
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Multiple mitochondrial dysfunctions syndrome 6
An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity.
Multiple mitochondrial dysfunctions syndrome 4
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death.
Mitochondrial trifunctional protein deficiency 2
An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early-onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features.
Mitochondrial pyruvate carrier deficiency
An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
Combined oxidative phosphorylation deficiency 22
A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
Mitochondrial complex V deficiency, nuclear type 2
A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
Mitochondrial complex IV deficiency, nuclear type 5
An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma.
Mitochondrial complex IV deficiency, nuclear type 11
An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex I deficiency, nuclear type 8
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 29
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance.
Combined oxidative phosphorylation deficiency 15
An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.
Mitochondrial complex I deficiency, nuclear type 12
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Deafness, aminoglycoside-induced
A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides.
Perrault syndrome 4
An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
Auditory neuropathy and optic atrophy
An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial complex V deficiency, nuclear type 5
A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance.
Mitochondrial complex IV deficiency, nuclear type 2
An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.
Mitochondrial complex IV deficiency, nuclear type 13
An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.
Mitochondrial complex III deficiency, nuclear type 4
A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Mitochondrial complex III deficiency, nuclear type 10
A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis.
Mitochondrial complex I deficiency, nuclear type 3
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 22
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 21
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 2
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial DNA depletion syndrome 5
A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.
Pontocerebellar hypoplasia 6
A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
Perrault syndrome 6
A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive.
Spinocerebellar ataxia 28
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
Mitochondrial complex IV deficiency, nuclear type 7
An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex IV deficiency, nuclear type 3
An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy.
Mitochondrial complex IV deficiency, nuclear type 1
An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure.
Mitochondrial complex II deficiency, nuclear type 1
A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive.
Mitochondrial complex I deficiency, nuclear type 6
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 37
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 17
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial DNA depletion syndrome 17
An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Variantes genéticas (ClinVar)
1.371 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 848 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
107 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença mitocondrial
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 20 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
41 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
190 ensaios clínicos encontrados, 55 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.735
Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
Before diagnostic whole exome sequencing, monogenic/chromosomal developmental and epileptic encephalopathies (DEEs) were frequently misdiagnosed as mitochondrial disorders (MDs) with epilepsy, due to overlapping clinical and biochemical features. Assessing muscle functional assays in patients with a genetic diagnosis and epilepsy offers a unique opportunity to explore mitochondrial dysfunction in monogenic/chromosomal DEEs, in comparison to the mitochondrial dysfunction observed in genetically confirmed MDs. In this retrospective cohort study, clinical and biochemical data were extracted from patients suspected of MD with epilepsy who underwent muscle/fibroblast biopsy (2005-2015). Patients were classified into four groups based on the final diagnosis. Mitochondrial Disease Criteria scores were assigned. Statistical analyses were conducted using Fisher's exact, analysis of variance, and Kruskal-Wallis tests. Of 27 included participants, eleven (40.7%) had DEEs, four (14.8%) had genetically confirmed MDs, eight (29.6%) were suspected MD cases without genetic confirmation, and four (14.8%) had nonmitochondrial metabolic diseases. Mitochondrial dysfunction was common across all groups; 85% of participants met probable/definite Mitochondrial Disease Criteria, over 70% had elevated plasma lactate (>2.5 mmol/L), and 92% exhibited impaired adenosine triphosphate production. Surprisingly, moderate to severe complex dysfunction was observed in all groups except genetically confirmed MDs. Our findings indicate that mitochondrial dysfunction is prevalent in nonmitochondrial DEEs. Patients previously diagnosed with an MD based only on muscle/fibroblast biopsy may benefit from whole exome sequencing to identify genetic variants, for which targeted therapy may be available. Future research should explore whether treatment or prognosis of nonmitochondrial DEEs should be tailored to improve mitochondrial function.
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
COG5, a subunit of the conserved oligomeric Golgi (COG) complex, plays a critical role in retrograde trafficking within the Golgi apparatus. Dysfunction of COG5 is associated with various human disorders, yet the underlying pathogenic mechanisms remain poorly understood. To investigate the mechanisms, we conducted proteomic analyses using COG5-deficient and rescue cell models, which revealed a potential link between COG5 dysfunction and mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Using COG5-deficient cell models and patient-derived cells harboring COG5 variants, we biochemically validated the involvement of COG5 in mitochondrial OXPHOS, particularly in the regulation of complex I content. These models also exhibited elevated cellular copper levels. Notably, the significant reduction in OXPHOS complexes could be rescued by either restoring COG5 expression or administering a copper chelator. We further demonstrated that excessive cellular copper disrupts the function of mitochondrial iron-sulfur clusters, potentially leading to complex I assembly defects. Additionally, we identified a patient with biallelic COG5 variants presenting with a distinct subtype of mitochondrial disease (Leigh syndrome), a phenotype not previously associated with COG5-related disorders. These findings provide novel mechanistic insights into the role of COG5, extending beyond its established function in Golgi-mediated glycosylation modifications. Our results underscore the importance of COG5 in mitochondrial function through a copper-dependent pathway, offering new perspectives on its contribution to cellular homeostasis and disease pathogenesis.
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder associated with mild-to-severe neurological/cognitive symptoms that impact quality of life. Most patients are diagnosed with late-onset OTCD after 28 days of age. Emerging symptoms in adolescents and adults may not be recognized as effects of hyperammonemia, a common and potentially lethal complication of OTCD, and may contribute to substantial burden even when patients are diagnosed and treated. However, current reviews do not address this burden. Our aim is to raise awareness of neurological/cognitive manifestations of late-onset OTCD in adolescents and adults to reduce diagnostic delays and improve outcomes. Acutely, patients can present with signs of neurological impairment and psychiatric manifestations, which may be associated with a specific trigger or without known cause. Cognitive changes are more likely to be subacute or chronic, and onset may occur after hyperammonemia. As many late-onset OTCD cases are identified after presenting to emergency departments or primary care providers (often followed by hospital admission), education of frontline providers is needed to drive awareness, recognize symptoms, and improve patient care. [Image: see text]
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.
POLG-related disorders exhibit marked phenotypic heterogeneity and frequent clinical overlap, often leading to delayed diagnosis. A precise delineation of their clinical spectrum, natural history, and the identification of reliable biomarkers is essential to improve diagnostic accuracy and guide therapeutic development. We analyzed a cohort of 34 patients with confirmed pathogenic POLG variants, assessing clinical phenotypes, molecular findings, and biomarkers (plasma growth differentiation factor-15 [GDF15] in 16, plasma neurofilament light chain [NF-L] in 14, and mitochondrial DNA [mtDNA] copy number in muscle in 16). Thirty four patients (0.6-71 years) from 33 families were included. Juvenile/adult onset (12-40 years) was the most common presentation (62%). The predominant phenotypic categories were ataxia-neuropathy spectrum ([ANS], 44%), autosomal recessive PEO-plus (arPEO-plus, 26%), and autosomal dominant PEO-plus ([adPEO-plus], 15%), with frequent phenotypic overlap. Recessive inheritance accounted for 74% of cases, with the most common variants being p.([Thr251Ile; Pro587Leu]) paired on 1 allele, p.(Ala467Thr), and p.(Trp748Ser). Dominant variants were associated with milder, primarily myopathic phenotypes. The most common dominant variant was p.(Tyr955Cys). No clear genotype-phenotype correlations were identified among recessive variants. Compared with previously reported cohorts, our patients exhibited a lower prevalence of seizures, hepatopathy, and stroke-like episodes. GDF15 was elevated in 87.5% of patients, with a mean level of 3,315 pg/mL (±1,559.79), showing no significant differences between myopathic and ANS phenotypes, supporting its role as a general biomarker of mitochondrial dysfunction. NF-L was elevated in 78.6% of tested individuals but did not correlate with phenotype or clinical severity (as per Newcastle Mitochondrial Disease Adult Scale score).On average, muscle mtDNA copy number in patients was 76% of that observed in controls, with no differences by phenotype or inheritance pattern. All but 1 patient exhibited multiple mtDNA deletions, likely representing the primary mechanism of oxidative phosphorylation dysfunction rather than mtDNA depletion. POLG-related disorders demonstrate extensive clinical variability with no consistent genotype-phenotype correlation. GDF15 and NF-L may serve as useful, though nonspecific, biomarkers of mitochondrial and neuroaxonal dysfunction, respectively. Prospective studies incorporating advanced molecular profiling are essential to establish reliable outcome measures and inform future therapeutic strategies.
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.
Mitochondrial disease encompasses inherited disorders affecting mitochondrial function. A severe and untreatable form of mitochondrial disease is Leigh syndrome (LS), causing psychomotor regression and metabolic crises. To accelerate drug discovery for LS, we screen a library of 5,632 repurposable compounds in neural cells from LS-patient-derived induced pluripotent stem cells (iPSCs). We identify phosphodiesterase type 5 (PDE5) inhibitors as leads and prioritize sildenafil for its clinical safety. Sildenafil corrects mitochondrial membrane potential defects, restores neurodevelopmental pathways, and normalizes calcium responses in LS brain organoids. In small and large mammalian models of LS, sildenafil extends lifespan and ameliorates disease phenotypes. Off-label treatment on an individual basis with sildenafil in six LS patients improves their motor function and resistance to metabolic crises. Collectively, the findings highlight the potential of iPSC-driven drug discovery and position sildenafil as a promising drug candidate for mitochondrial disease.
Publicações recentes
Blood mtDNA markers of mitochondrial subtype and early-onset Parkinson's disease biology.
Comparative analysis of muscle pathologies and metabolic signaling in mouse models of mitochondrial dysfunction.
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.
Loss of TMEM65 in mice causes mitochondrial disease mediated by mitochondrial Ca(2).
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
📚 EuropePMC1.205 artigos no totalmostrando 196
Mitochondrial dysfunction in urologic disease.
Prostate cancer and prostatic diseasesm.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.
American journal of medical genetics. Part AIntegrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
MitochondrionMetabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.
Journal of clinical medicineMitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
Pediatric neurologyCOG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
PLoS geneticsEmerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.
Metabolic brain diseaseClinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.
Neurology. GeneticsFrom disease prevention to fertility treatment: rethinking the use of mitochondrial donation for oocyte-related infertility in the light of safety and efficacy.
Human reproduction (Oxford, England)Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.
CellComprehensive evaluation of hypertrophic cardiomyopathy: European Journal of Heart Failure expert consensus document.
European journal of heart failureThe goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trial.
Molecular genetics and metabolismSurgical Treatment for Spinal Scoliosis in Patient With Mitochondrial Disease After Heart Transplantation: A Case Report and Literature Review.
Case reports in orthopedicsAssociation of mitochondrial genetic background with pS65-Ub in Lewy body disease.
Acta neuropathologicaMitochondrial complex assembly in epilepsy of primary mitochondrial disease origin.
Seizure[Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).
Journal of clinical neuromuscular diseaseCharting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.
Genetics in medicine : official journal of the American College of Medical GeneticsMesenchymal stem cell mitochondrial transfer effectively protects Leber's Hereditary Optic Neuropathy (LHON) mutant cells from mitochondrial damage.
Acta histochemicaA case report of combined oxidative phosphorylation deficiency 35 (COXPD35) in Palestine caused by novel compound heterozygous TRIT1 variants.
MedicineRecessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.
Research squareThe Citric Acid Cycle Modulates Neurologic Health and Is a Therapeutic Target of Dietary and Genetic Modification in Metabolic Disease.
GenesMainstreaming genomic testing for mitochondrial disease in Australia.
European journal of human genetics : EJHGMITO-VATION: Feasibility of a technology-supported structured home exercise program in Mitochondrial Disease.
PLOS digital healthRisk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings.
Annals of pediatric cardiologyNovel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.
American journal of medical genetics. Part AMuscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction.
Neuromuscular disorders : NMDNutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.
Endocrinology, diabetes & metabolism case reports4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.
bioRxiv : the preprint server for biologyHypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMFrom genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Molecular genetics and metabolismPhenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.
MitochondrionIdentifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.
Journal of family & community medicineA novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNeuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.
BMC neurologyMELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.
Journal of clinical medicineShort telomeres in mitochondrial DNA depletion disorders.
MitochondrionA Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.
Saudi journal of medicine & medical sciencesEarly diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySuper-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Annals of clinical and translational neurologyCase Report: Simultaneous pancreas-kidney transplantation in MELAS: first reported case with 5-year follow-up.
Frontiers in transplantationLargely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.
Journal of cachexia, sarcopenia and muscleLeigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.
Cellular and molecular neurobiologyExpanding the cognitive spectrum of mitochondrial diseases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.
Brain : a journal of neurologyBridging gaps in mitochondrial disease diagnosis: the role of advanced biomarker discovery.
Journal of molecular medicine (Berlin, Germany)Spatial mapping of CoQ10 repletion by BPM31510 in a genetic mouse model (Coq4F147C) of coenzyme Q deficiency.
Journal of lipid research[Super-refractory status epilepticus caused by hereditary mitochondrial disease].
Ugeskrift for laegerImpaired mitochondrial morphology and respiratory dysfunction in human induced pluripotent stem cells with mitochondrial tRNA mutations (m.3243A>G and m.14739G>A).
Orphanet journal of rare diseasesOutcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Molecular genetics and metabolismRTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.
Endocrine connectionsOptical and Microdialysis Monitoring of Succinate Prodrug Treatment in a Rotenone-Induced Model of Mitochondrial Dysfunction in Swine.
MetabolitesTargeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.
Pharmacological reports : PRDrivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
JIMD reportsSensitivity of primary mitochondrial disease fibroblasts to ferroptosis: The role of intracellular iron.
MitochondrionDeficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.
Orphanet journal of rare diseasesUltrasound-assisted gene therapy mitigates Leigh syndrome pathology.
Brain : a journal of neurologyALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.
Current opinion in neurobiologyMultiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.
Molecular genetics & genomic medicineEthylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report.
SAGE open medical case reportsNMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.
Metabolomics : Official journal of the Metabolomic SocietyClinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
NeurologyEnergy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice.
Journal of inherited metabolic diseaseEvaluation of MASSARRAY technique in detecting mitochondrial disease mutations.
Clinica chimica acta; international journal of clinical chemistryMitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency.
CureusHomozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial Disease.
American journal of medical genetics. Part ASWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model.
Molecular genetics and metabolismMitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Annals of Indian Academy of NeurologyThe Path to Precision Medicine in Leigh Syndrome Spectrum: A Four-Decade Chronicle of Genetic Discovery and Targeted Treatment.
Frontiers in bioscience (Scholar edition)Mapping metabolic dependences and capacities using ATP as a biomarker.
Research squareFerroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.
Brain & developmentProfiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Frontiers in neurologyFerroptosis is a novel pathogenic mechanism of FDXR-related disease via disruption of the NRF2 pathway.
Cell death discoveryFrom Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Journal of child neurologyStroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 24.
Frontiers in neurologyComprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach.
Orphanet journal of rare diseasesMutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.
EMBO molecular medicineQuantifying variability of mitochondrial markers in m3243A > G myopathy.
Scientific reportsCounseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.
Pediatric neurologyIdentification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.
Neurology. GeneticsFull recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Molecular genetics and metabolism reportsFunctional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.
Journal of clinical laboratory analysisPartial restoration of mitochondrial dysfunction by AAV-Ant1 protects from dilated cardiomyopathy in Ant1-/- plus mtDNA mutant mice.
Nature communicationsMitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant.
Clinical case reportsAn Alternative Metabolic Pathway of Glucose Oxidation Induced by Mitochondrial Complex I Inhibition: Serinogenesis and Folate Cycling.
International journal of molecular sciencesClinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMitochondria-targeted gene delivery using fluorinated lipid nanoparticles to alleviate Leber's hereditary optic neuropathy.
Nature communicationsVacuolar-type H+-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction.
Nature communicationsExamining saliva proteomic dynamics in mitochondrial diseases from a perspective of intrinsic health.
Scientific reportsDietary lipid content modifies wah-1/AIFM1-associated phenotypes via LRK-1 and DRP-1 expression in C. elegans.
Nature communicationsExercise-mediated regulation of mitochondrial dynamics in aging muscle: implications for mitochondrial diseases.
Molecular and cellular biochemistryCardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians.
European heart journal. Imaging methods and practiceMitochondrial Disease Diagnosed Following Preterm Birth at 29 Weeks of Gestation and Postpartum Heart Failure: A Case Report and Literature Review.
Clinical case reportsDysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh syndrome.
The Journal of clinical investigationKidney transplantation in mitochondrial diseases: a systematic review.
Pediatric nephrology (Berlin, Germany)SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond CHCHD10-Associated Motor Neuron Disease.
International journal of molecular sciencesFrom Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant.
Children (Basel, Switzerland)Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case Report.
Nephrology (Carlton, Vic.)Fontaine progeroid syndrome with neonatal mitochondrial disease.
Human genome variationExpanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization.
Research involvement and engagementCRISPR/Cas9-mediated editing of MIC13 in human induced pluripotent stem cells: A model for mitochondrial hepato-encephalopathy.
Stem cell researchHypocitrullinemia as an Early Diagnostic Biomarker for MT-ATP6 Mitochondrial Diseases.
Journal of molecular neuroscience : MNComputational design of a high-precision mitochondrial DNA cytosine base editor.
Nature structural & molecular biologyA Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Tremor and other hyperkinetic movements (New York, N.Y.)The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Brain : a journal of neurologyMitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
International journal of molecular sciencesPerioperative Care of a Child With Combined Oxidative Phosphorylation Deficiency 6: Total Intravenous Anesthesia With Remimazolam.
Journal of medical casesMild pancreatic fibrosis with preserved exocrine function and increased visceral adipose tissue in m.3243A>G carriers: A magnetic resonance imaging study.
Molecular genetics and metabolismNational diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyFrom Castro to Quantum Mechanics: Marching Through Tunnels With Reactive Oxygen Species.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyMitochondrial Leigh syndrome: the state of the art.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieNatural products that suppress 2-deoxy-d-glucose-induced cell death as potential drug seeds for mitochondrial diseases.
Bioorganic & medicinal chemistryMitochondrial Activation and Therapeutics: Innovations in Cell- and Organelle-Specific Medicine.
Biological & pharmaceutical bulletinGut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).
Annals of medicine and surgery (2012)Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.
Analytical biochemistryMechanisms of Mitochondrial Impairment by SARS-CoV-2 Proteins: A Nexus of Pathogenesis with Significant Biochemical and Clinical Implications.
International journal of molecular sciencesLong-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact.
Journal of the American Heart AssociationSuper mitochondria-enriched extracellular vesicles enable enhanced mitochondria transfer.
Nature communicationsDiabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm.
Diabetes, obesity & metabolismModeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.
Journal of visualized experiments : JoVESigns, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.
Journal of patient-reported outcomesCase Report: Aveir implantation in an 8.7-year-old, 25-kg pediatric patient with mitochondrial disease via internal jugular vein.
Frontiers in cardiovascular medicineLactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.
Molecular genetics and metabolism reportsMacular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease.
BMJ neurology openClinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.
Journal of human geneticsFrom Biogenesis to Breakdown: How Protein Biogenesis and Quality Control Failures Drive Mitochondrial Disease.
Molecular and cellular biologyRegion-Specific Quantification of 2-Hydroxyglutarate Enantiomers in Murine Brain during Mitochondrial Complex I Deficiency.
ACS chemical neuroscienceEvaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.
International journal of molecular sciencesEvaluation of atypical antipsychotic-induced mitochondrial dysfunction in patients with schizophrenia: a randomised controlled trial protocol.
BMJ open[Long-term efficacy observation of nicotinamide in the treatment of early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 caused by NAXD gene variation].
Zhonghua er ke za zhi = Chinese journal of pediatricsPathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria.
Biochimica et biophysica acta. Molecular basis of diseaseCardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
Molecular genetics and metabolismFrom stroke workup to mitochondrial disease: A case report of MELAS.
Radiology case reportsThe Case of a 25-Year-Old Woman With Isolated Head Tremor.
Annals of clinical and translational neurologyFirst approved drug for mitochondrial disease raises hopes for more.
Science (New York, N.Y.)Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.
Brain communicationsLithium nickel manganese cobalt oxide particles cause developmental neurotoxicity in Caenorhabditis elegans.
Environmental science. AdvancesA mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.
Proceedings of the National Academy of Sciences of the United States of AmericaEstablishment of human Leber's hereditary optic neuropathy model using iPSC-derived retinal organoids.
Frontiers in cellular neuroscienceHealth-related quality of life in patients with mitochondrial disease and their carers.
Journal of medical geneticsTranscriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.
GenesThe First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.
BiomoleculesGene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.
Molecular therapy : the journal of the American Society of Gene TherapyWidespread and progressive brain atrophy is a common feature in patients with mitochondrial disease.
Journal of neurologyNeuroimaging features of familial MT-TK related mitochondrial disease in a child.
BMJ case reportsMitochondrial Transplantation: A Paradigm Shift in Osteoporosis Therapy.
International journal of nanomedicineCompartmentalized thymidine phosphorylation by mitochondrial nucleotide kinases TK2 and CMPK2.
The Journal of biological chemistry[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].
Zhonghua er ke za zhi = Chinese journal of pediatricsMeclizine rescues cardiac function and mitochondrial ultrastructure by ATP- and glycolysis-independent mechanisms in a genetic model of mitochondrial energy dysfunction.
bioRxiv : the preprint server for biologyMitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances.
MedCommGenetic background of neurological disorders with basal ganglia calcification.
Journal of neurologyMotor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.
Journal of the peripheral nervous system : JPNSMitochondria-Associated Pathways in Cancer and Precancerous Conditions: Mechanistic Insights.
International journal of molecular sciencesAssessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data.
Annals of clinical and translational neurologyOXPHOS complex deficiency in congenital myopathy: A systematic review.
European journal of clinical investigationStructural insights into DdCBE in action enable high-precision mitochondrial DNA editing.
Molecular cellEstradiol alleviates disease phenotypes caused by m.3635G > A mutation by activating mitochondrial biogenesis and PINK1-Parkin mediated mitophagy in iPSC-derived retinal pigment epithelium cells.
Cellular signallingPreclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Brain : a journal of neurologyADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Cell reportsMitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
American journal of medical genetics. Part APyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.
NeurologyMetformin may alter the course of Leber's hereditary optic neuropathy: a case report.
Frontiers in medicineAlterations in mitochondrial base editors enhance targeted editing efficiency for mouse model generation.
Molecular therapy. Nucleic acidsLate-onset Leber's hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?
Frontiers in neurologyNeonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.
Diabetic medicine : a journal of the British Diabetic AssociationRetinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.
International journal of ophthalmologyRTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.
The EMBO journalGenetic Dissection of Energy Deficiency in Autism Spectrum Disorder.
GenesEfficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study.
Life (Basel, Switzerland)Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.
Neuromuscular disorders : NMDDysfunctional Electron Transport Chain Assembly in COXPD8.
Journal of cardiovascular development and diseaseQuality control at the powerhouse: mitochondrial proteostasis dysfunction and disease.
Biochemical Society transactionsNonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
JACC. Case reportsRecurrent Syncope and Drooping Eyes in a Young Woman: Kearns-Sayre Syndrome.
JACC. Clinical electrophysiologyThe homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.
MitochondrionPrevalence of human T-cell leukemia virus type 1 associated inflammatory myopathies (HAIM) in Salvador, Brazil.
PLoS neglected tropical diseasesThe mitochondrial trans-2-enoyl-CoA reductase is necessary for mitochondrial homeostasis in C. elegans.
GeneticsHigh tide or low tide: the transport and metabolism of mitochondrial nucleotides.
The Biochemical journalElamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report.
Molecular genetics and metabolismReduced complex I activity in the retinal pigment epithelium, but not in rod photoreceptors, affects light signaling without impacting cell survival.
The Journal of biological chemistryndufs2-/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.
bioRxiv : the preprint server for biologyRewriting nuclear epigenetic scripts in mitochondrial diseases as a strategy for heteroplasmy control.
EMBO molecular medicineExtraocular features of Leber hereditary optic neuropathy: A scoping review.
Journal of biological methodsSevere clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.
Journal of rare diseases (Berlin, Germany)Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models.
Frontiers in pharmacologyCorrigendum to 'Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations' [Molecular Genetics and Metabolism Volume 146, Issues 1-2 (2025) Pages 109197].
Molecular genetics and metabolism"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchRetrospective observational study of the magnetic resonance imaging features of MPV17-related mitochondrial DNA depletion syndrome.
Pediatric radiologyA novel m.14677 T > C variant in mitochondrial tRNAGlu gene causes chronic progressive external ophthalmoplegia.
Journal of human geneticsNoninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies.
Muscles (Basel, Switzerland)Mitochondrial disease management through phytochemical interventions.
Molecular and cellular biochemistryReframing primary mitochondrial disease as a sterile interferonopathy.
Molecular genetics and metabolismSmall molecule oxybutynin rescues proliferative capacity of complex III-defective muscle progenitor cells.
American journal of physiology. Cell physiologyThree-donor IVF prevents mitochondrial disease.
Nature medicinePhosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations.
Molecular genetics and metabolismHypoparathyroidism in a Child with MELAS Syndrome: A Case Report of Severe Lactic Acidosis and Symmetrical Bilateral Basal Ganglia Calcification.
International journal of endocrinology and metabolismAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença mitocondrial.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença mitocondrial e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição é causada por falha na atividade das mitocôndrias celulares. Isso pode ocorrer por alterações genéticas nucleares ou do DNA mitocondrial, além de causas adquiridas como efeitos adversos de remédios e infecções.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença mitocondrial. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-mitocondrial
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença mitocondrial
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
