Doença rara do metabolismo de aminoácidos/proteínas, com manifestações neurológicas (anartria, padrão respiratório anormal, hipoplasia cerebelar), cardíacas e hematológicas (anemia hemolítica, hipercoagulabilidade). Pode apresentar aumento de ferro sérico e ácido malônico na urina.
Introdução
O que você precisa saber de cara
Visão geral
A doença do metabolismo dos aminoácidos ou proteínas é um grupo de condições genéticas raras que afetam a forma como o corpo processa aminoácidos e proteínas. Isso pode levar ao acúmulo de substâncias tóxicas ou à deficiência de compostos essenciais, causando diversos sintomas. A condição é conhecida internacionalmente como 'Disorder of amino acid and other organic acid metabolism'.[1]
Sinais e sintomas
Os sinais e sintomas podem variar amplamente e incluem alterações neurológicas, como anartria (incapacidade de falar), padrão anormal de respiração, mioclonia palatal (contrações musculares involuntárias no palato) e neuropatia sensorimotora (danos nos nervos que afetam sensação e movimento). Também podem ocorrer problemas cardíacos, como função ventricular cardíaca anormal e morfologia anormal do septo atrial, além de alterações sanguíneas, como anemia hemolítica congênita, hipercoagulabilidade (tendência aumentada a formar coágulos) e anisocitose (variação no tamanho das células sanguíneas). Outros sintomas incluem hemorragia uterina, deformidades faciais, anormalidades nos dedos, perda prematura de dentes, aterosclerose precoce e alterações na morfologia vascular retiniana.[1][2]
Causas genéticas
A doença é causada por alterações (mutações) em genes que fornecem instruções para proteínas envolvidas no metabolismo de aminoácidos. Os genes associados incluem BLOC1S3, SLC3A1, GCH1, SLC6A19, MTRR, MCCC2, PRCD, CERKL, MAK, SNRNP200, BBS1 e ROM1. Cada um desses genes tem uma função específica, como o transporte de aminoácidos (SLC3A1, SLC6A19) ou a produção de enzimas essenciais (GCH1, MTRR, MCCC2). A herança pode variar dependendo do gene envolvido, mas não há dados específicos de prevalência ou idade de início disponíveis nas fontes consultadas.[1][3]
Diagnóstico
O diagnóstico é geralmente realizado por meio de testes genéticos, que podem identificar mutações nos genes associados à doença. Atualmente, existem 336 testes genéticos disponíveis para essa condição, e 470 variantes genéticas foram registradas no ClinVar, um banco de dados público que relaciona variantes genéticas a fenótipos clínicos. O diagnóstico também pode ser apoiado pela identificação de fenótipos característicos, como níveis elevados de ácido malônico na urina ou concentração elevada de glutationa circulante.[1][3]
Tratamento e manejo
Não há informações específicas sobre tratamentos ou medicamentos aprovados para essa condição nas fontes consultadas. O manejo geralmente é sintomático e de suporte, podendo incluir acompanhamento multidisciplinar com especialistas em genética, neurologia, cardiologia e nutrição. É importante consultar um médico para orientação individualizada.[1]
Prognóstico e qualidade de vida
Não há dados específicos sobre prognóstico ou qualidade de vida nas fontes consultadas. O curso da doença pode variar amplamente dependendo dos genes envolvidos e da gravidade dos sintomas. O acompanhamento médico regular é essencial para monitorar e gerenciar as complicações.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A deficiência de 3‑hidrox‑3‑metilglutaril‑CoA liase (também conhecida como deficiência de HMG‑CoA liase) é um distúrbio hereditário incomum no qual o corpo não consegue processar um bloco de construção de proteína (aminoácido) específico chamado leucina. Além disso, o distúrbio impede o corpo de produzir cetonas, que são compostos usados como fonte de energia durante períodos sem alimento (jejum).
Os sinais e sintomas da deficiência de HMG‑CoA liase geralmente aparecem dentro do primeiro ano de vida. A condição causa episódios de vômito, diarreia, desidratação, fadiga extrema (letargia) e tônus muscular fraco (hipotonia). Durante um episódio, os níveis de açúcar no sangue (glicose) podem ficar perigosamente baixos (hipoglicemia), e o acúmulo de compostos nocivos pode fazer com que o sangue se torne excessivamente ácido (acidose metabólica). Se não for tratada, a condição pode levar a problemas respiratórios, convulsões, coma e morte. Os episódios são frequentemente desencadeados por uma infecção, jejum, exercício vigoroso ou outros tipos de estresse.
A deficiência de HMG‑CoA liase às vezes é confundida com a síndrome de Reye, um distúrbio grave que se desenvolve em crianças enquanto parecem estar se recuperando de infecções virais como catapora ou gripe. A maioria dos casos de síndrome de Reye está associada ao uso de aspirina durante essas infecções virais.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDoença rara do metabolismo de aminoácidos/proteínas, com manifestações neurológicas (anartria, padrão respiratório anormal, hipoplasia cerebelar), cardíacas e hematológicas (anemia hemolítica, hipercoagulabilidade). Pode apresentar aumento de ferro sérico e ácido malônico na urina.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 1075 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 2283 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
90 genes identificados com associação a esta condição.
Hermansky-Pudlak syndrome 8
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Cystinuria
An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
Hyperphenylalaninemia, BH4-deficient, B
A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia.
Hartnup disorder
Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria.
Homocystinuria-megaloblastic anemia, cblE type
An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.
3-methylcrotonoyl-CoA carboxylase 2 deficiency
An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
Retinitis pigmentosa 36
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 26
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 62
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 33
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
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.
Molybdenum cofactor deficiency C
A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
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.
Molybdenum cofactor deficiency A
An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
Methylmalonic aciduria and homocystinuria, cblD type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, and megaloblastic anemia. Laboratory studies show methylmalonic aciduria and homocystinuria.
Griscelli syndrome 1
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities.
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.
Hypercholanemia, familial, 2
An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes.
Hypercholanemia, familial, 1
A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
Spinocerebellar ataxia, autosomal recessive, 13
A form of spinocerebellar ataxia, 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. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia.
Alkaptonuria
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
Acyl-CoA dehydrogenase very long-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.
Methylmalonic aciduria and homocystinuria, cblC type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.
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.
Dicarboxylic aminoaciduria
An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability.
Hyperlysinemia, 1
An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.
Albinism, oculocutaneous, 6
A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.
Citrin deficiency, adolescent or adult onset
An autosomal recessive metabolic disorder characterized by elevated serum and urine citrulline levels, ammonia intoxication, and neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema.
Hyperornithinemia with gyrate atrophy of choroid and retina
A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
Hyperprolinemia 1
An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported.
Glutaric aciduria 3
An autosomal recessive metabolic condition characterized by urinary excretion of abnormal quantities of glutaric acid, in the presence of normal 3-hydroxyglutarate, glutarylcarnitine and glutarylglycine urinary levels. Affected individuals show no consistent clinical phenotype and many are asymptomatic.
Hydroxykynureninuria
An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non-progressive encephalopathy, and muscular hypertonia.
Charcot-Marie-Tooth disease, axonal, type 2Q
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Leucine-induced hypoglycemia
Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.
GABA-transaminase deficiency
An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive.
3-methylcrotonoyl-CoA carboxylase 1 deficiency
An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
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 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.
Methylmalonyl-CoA epimerase deficiency
Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
Methylmalonic aciduria and homocystinuria, cblF type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.
Methylmalonic aciduria and homocystinuria, cblX type
An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis.
Methylmalonate semialdehyde dehydrogenase deficiency
A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
Maturity-onset diabetes of the young 11
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Hyperproinsulinemia
An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs.
Hermansky-Pudlak syndrome 7
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Glycine encephalopathy with normal serum glycine
An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.
Glycine encephalopathy 2
A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development.
Lactate dehydrogenase B deficiency
A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.
Pyruvate kinase hyperactivity
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Spinocerebellar ataxia, autosomal recessive, 18
A form of spinocerebellar ataxia, 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. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.
Cutis laxa, autosomal recessive, 3A
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Macular degeneration, age-related, 6
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Short-rib thoracic dysplasia 9 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
Retinitis pigmentosa 54
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 11
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
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.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MAMM is unresponsive to vitamin B12 therapy.
Maturity-onset diabetes of the young 8 with exocrine dysfunction
An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.
Maturity-onset diabetes of the young 7
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Type 2 diabetes mellitus
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Maturity-onset diabetes of the young 1
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Sulfite oxidase deficiency, isolated
A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke.
Segawa syndrome autosomal recessive
A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.
Retinitis pigmentosa 78
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive.
Retinitis pigmentosa 69
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 68
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Bardet-Biedl syndrome 3
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Retinitis pigmentosa 4
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Usher syndrome 2A
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Retinitis pigmentosa 31
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Propionic acidemia type I
Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
Phosphoglycerate dehydrogenase deficiency
An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.
Hyperinsulinemic hypoglycemia, familial, 2
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.
Malonyl-CoA decarboxylase deficiency
Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.
Pancreatic agenesis 1
A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
Retinitis pigmentosa 7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Hyperphenylalaninemia, mild, non-BH4-deficient
An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.
Methionine adenosyltransferase deficiency
An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity.
Hypermethioninemia due to adenosine kinase deficiency
A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal.
Hyperammonemia due to carbonic anhydrase VA deficiency
An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis.
Variantes genéticas (ClinVar)
470 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
158 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo dos aminoácidos ou proteínas
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo dos aminoácidos ou proteínas
Centros para Doença do metabolismo dos aminoácidos ou proteínas
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Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
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Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
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Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
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Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
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Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
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Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
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Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
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Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
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Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
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Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
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Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
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Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
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Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
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UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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Publicações mais relevantes
Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.
Newborn screening (NBS) through disease biomarkers has significantly reduced severe outcomes of congenital disorders. Moreover, exploratory newborn genetic screening programs are increasingly being implemented. This consensus, developed by multidisciplinary experts, aims to standardize the combined screening of genes and biomarkers for neonatal diseases in China, balancing ethical, technical, and clinical considerations. This consensus synthesizes evidence from peer-reviewed literature (PubMed, CNKI, etc.) up to 2024 and integrates clinical experiences from multidisciplinary experts in neonatology, genetics, and laboratory medicine, focusing on disease biomarker-based NBS, newborn genetic screening, and the clinical utility of combined screening. The consensus defines principles for combined screening: (1) disease/gene selection: 154 disease-causing genes covering 67 inherited metabolic disorders (e.g., amino acid metabolism disorders, organic acid metabolism disorders), prioritized by treatability, onset age (< 5 years), and cost-effectiveness; (2) methodology: integrating dried blood spot biomarker analysis with next-generation sequencing-based targeted capture (coverage > 300 ×), validated by MLPA/Sanger and long-range sequencing for complex variants (e.g., CYP21A2, SLC25A13); and (3) operational workflow: standardized workflows for informed consent, sample collection/delivery, and result interpretation, with dual reporting of marker and genetic findings within 15 days. Positive cases require family verification and/or other genetic sequencing techniques. This consensus establishes a practical framework for integrating marker and genetic screening, aiming to improve diagnostic accuracy and achieve rapid and effective interventions, thereby saving lives and reducing the occurrence of severe complications. Implementation requires interdisciplinary collaboration and ongoing quality control to maximize clinical utility.
Integrated pathological assessment and multi-omics analysis of the effects of Pinellia ternata aqueous extract on lung and spleen dysfunction in a rat model of phlegm-dampness obstruction.
In traditional Chinese medicine (TCM), Pinellia ternata is widely used to treat respiratory and digestive disorders due to its efficacy in resolving phlegm, alleviating cough, and stopping nausea. Guided by the traditional concept that "the spleen generates phlegm and the lung stores it," this study established a sulfur-smoke combined with cold-damp exposure model in Sprague-Dawley rats to investigate the therapeutic effects and molecular mechanisms of P. ternata aqueous extract. Rats were assigned to blank (CK), model (MD), positive-drug (Y1/Y2), and low-, medium-, or high-dose P. ternata extract groups (0.75/1.5/3.0 g/kg). Lung function was assessed using a non-invasive Buxco system across 12 respiratory parameters. Lung and spleen pathology and mucin (MUC5AC/MUC5B) expression were evaluated by H&E staining and immunohistochemistry. Plasma IL-6, TNF-α, TGF-β, PCT, and other inflammatory markers were measured by ELISA. Plasma metabolite profiles were analyzed using LC-MS/GC-MS platforms, and lung and spleen transcriptomes were examined to determine gene expression changes. In parallel, the chemical constituents of the P.ternata aqueous extract were characterized using widely targeted metabolomics and high-performance liquid chromatography, and molecular docking was employed to elucidate the interactions between individual constituents and potential therapeutic targets. After 28 days of modeling, airway obstruction was most severe in the MD and low-dose extract groups, whereas the medium- and high-dose groups showed no significant difference from CK or the positive-drug groups, indicating effective symptom relief at adequate doses. The extract, especially at high dose, markedly improved lung and tracheal inflammation and restored spleen tissue architecture. It dose-dependently suppress MUC5AC overexpression in lung and tracheal tissues, while showing variable effects on MUC5B. The extract also reduced plasma pro-inflammatory cytokines and TGF-β and PCT levels, improving systemic immune imbalance. Metabolomics revealed that high-dose P.ternata downregulated amino acids related to mucin synthesis (e.g., proline) and inflammatory lysophosphatidylcholines, while increasing immune-regulatory lipids such as ω-3 PUFA and S1P. These metabolic shifts were accompanied by upregulation of key genes in the Notch pathway in the spleen and suppression of cytokine-storm-related signaling in the lung, including NF-κB(nuclear factor kappa-B), JAK-STAT(Janus kinase/signal transducer and activator of transcription), and PI3K-Akt(phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)) signaling pathways, collectively reducing inflammation and correcting metabolic dysregulation. Combined targeted metabolomics and high-performance liquid chromatography identified that the major constituent categories in Pinellia ternata aqueous extract are organic acids, alkaloids, and nucleosides. Analysis of constituent-target interactions revealed that nucleoside compounds exhibited the strongest binding affinity to the predicted targets. This study, through integrated pathological, metabolomic, and transcriptomic analyses, elucidates both the core pathological features of phlegm-dampness lung obstruction and the modern biological basis for the traditional role of P. ternata in "strengthening the spleen and resolving phlegm." Importantly, nucleoside compounds were identified as key active constituents contributing to its therapeutic effects. Collectively, these findings offer experimental support for the classical TCM concept that spleen dysfunction leads to phlegm accumulation in the lung.
Discovery of first-in-class melanostatin-based ago-allosteric modulators of the dopamine D2 receptors.
Melanostatin (MIF-1) is an endogenous tripeptide that acts as a positive allosteric modulator (PAM) of the dopamine D2 receptors (D2R), making it a valuable pharmacological lead for the treatment of dopamine-related disorders of the central nervous system (CNS). In this study, a novel series of MIF-1 derivatives was synthesized and pharmacologically evaluated to investigate the influence of ring flexibility and stereochemistry on PAM activity. For this purpose, the alicyclic β-amino acids (1R,2S)-2-aminocyclopentane-1-carboxylic acid (cispentacin) and its unsaturated precursor, (1R,2S)-2-aminocyclopent-3-ene-1-carboxylic acid, were used as proline surrogates. The results obtained showed that cispentacin-based derivatives 8b and 9b displayed PAM activity at 10 pM, significantly reducing the EC50 of dopamine by 4.34- and 4.22-fold, respectively (8b: EC50 = 20.08 ± 3.95 nM; 9b: EC50 = 20.61 ± 4.60 nM). At 1 nM, 8b further decreased the EC50 of dopamine by 9.20-fold (EC50 = 9.47 ± 5.02 nM) and, at higher concentrations (10 and 100 μM), it activated the D2R in the absence of dopamine, representing the first-in-class MIF-1-based ago-allosteric modulator of the D2R. Cytotoxicity assays in human dopaminergic-differentiated SH-SY5Y cells showed that neither 8b nor 9b exhibited cytotoxic effects at 100 μM, as assessed by both the MTT reduction and neutral red uptake assays, supporting their favorable toxicological profiles. Overall, these findings demonstrate that a fine-tuned interplay between ring flexibility and stereochemistry is a key determinant in generating effective PAM of the D2R, providing a framework for the future design of MIF-1-based modulators targeting Parkinson's disease and other dopamine-related CNS disorders. 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency can be categorized into three subtypes based on age of presentation. Neonatal onset, the least frequent phenotype, is characterized by hypotonia, seizures, and feeding difficulties at birth. There is a high risk of death in childhood, and individuals that survive typically have developmental delay, seizures, poor weight gain, and growth deficiency and develop a movement disorder. Infantile onset is the most common phenotype, presenting in the first two years of life with feeding difficulties, vomiting, developmental delay with regression, hypotonia, seizures, movement disorder, microcephaly, vision impairment, and episodes of neurologic deterioration. Late onset is the second most common phenotype, presenting in childhood as a slowly progressive disease with significant movement disorder with or without paroxysmal dystonia, variable cognitive impairment, and high survivability. The diagnosis of HIBCH deficiency is established in a proband with characteristic clinical, laboratory, and brain imaging findings and biallelic pathogenic variants in HIBCH identified by molecular genetic testing. Targeted therapy: Valine-restricted diet. As seen in other metabolic disorders, treatment using special formulas (medical food) can be implemented successfully via oral route in individuals diagnosed within the first few months of life. Later on, if palatability or feeding intolerance becomes a problem, formula can be given by gastrostomy tube. A restriction in total protein intake without quantitation of valine may be necessary in individuals on an oral diet with poor adherence to medical food or formula. Supportive care: Developmental and educational support; feeding therapy with gastrostomy tube as needed; standard treatments for spasticity and epilepsy; treatment of movement disorder per movement disorder specialist; management of ocular issues per ophthalmologist with low vision services as needed; early intervention for cerebral visual impairment; hearing aids per otolaryngologist and community hearing services as needed; transitional care support; social work and family support. Surveillance: Evaluation with a metabolic specialist and metabolic dietitian including assessment of total protein and valine intake, fasting plasma amino acids, blood total and free carnitine and acylcarnitine profile, lactic acid in blood, and urine organic acids with frequency per metabolic specialist; measurement of growth parameters, evaluation of nutrition and oral intake, and assessment of developmental progress and educational needs at each visit; assessment for changes in tone, seizures, movement disorders, mobility, self-help skills, evidence of aspiration, respiratory insufficiency, and sleep apnea at each visit; ophthalmology evaluation at least annually; audiology evaluation as needed. Agents/circumstances to avoid: Due to secondary mitochondrial abnormalities it may be beneficial to avoid sodium valproate if possible; consider anesthesia use carefully; avoid prolonged propofol use; prevent catabolism; avoid neuromuscular blocking agents in those with muscle disease; avoid lactate-containing agents, including dialysate containing lactate; ketogenic / modified Atkins diets should be avoided due to potential side effects; triheptanoin is contraindicated due to the potential increase in propionyl-CoA; dichloroacetate, as there is no published evidence to support its use in HIBCH deficiency. Evaluation of relatives at risk: It is appropriate to evaluate at-risk newborns and older sibs of an affected individual to identify as early as possible those who would benefit from prompt initiation of targeted therapy. HIBCH deficiency is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an HIBCH pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the HIBCH pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.
Ileal Bile Acid Transporter Inhibitors in Cholestasis: Potential for More Than Just Paediatrics?
Ileal bile acid transporter inhibitors (IBATi) are a new, attractive therapeutic mechanism to alter the enterohepatic circulation through depletion of the bile acid pool by blocking bile acid reuptake in the ileum leading to improvements in pruritus and liver function in cholestatic liver diseases. These drugs may also have an impact on immunity, the gut microbiome, and motility. IBATi are approved in Japan for the treatment of idiopathic chronic constipation. There are two IBATi, maralixibat and odevixibat, that have been extensively investigated in clinical trials and are FDA approved for cholestatic pruritus in progressive familial intrahepatic cholestasis and Alagille syndrome. Clinical trials exploring IBATi in other cholestatic conditions, such as biliary atresia, primary biliary cholangitis, and primary sclerosing cholangitis, are currently ongoing. In this review, we will outline the emerging data regarding the physiology and mechanism of action for the IBATi class, an overview of clinical trials that led to the approval of maralixibat and odevixibat, ongoing clinical trials in adult cholestatic liver diseases, and the future of this drug class in systemic apical sodium bile acid transporter inhibitors.
Targeting cholinesterases with steroid hormone derivatives: Insights from In Vitro assays and molecular modeling.
Steroids represent a large family of organic compounds that, as signaling molecules, play important role in variety of physiological processes as control of metabolic pathways, inflammation processes, immune response, and growth, development and reproduction. Modifying the steroid core has allowed the creation of novel synthetic derivatives, which can offer significant benefits in medicine for treating a wide range of pathological conditions. Quite a number of natural steroids have been identified as effective inhibitors of cholinesterases, pointing them out as potential therapeutic alternatives in the application in Alzheimer's disease (AD). Nevertheless, only a limited number of synthetic steroids have so far been studied as cholinesterase inhibitors, highlighting an opportunity for the development of new therapeutic agents derived from natural steroidal frameworks. In this study, we selected a set of structurally diverse steroid hormone derivatives and evaluated in vitro their inhibitory activity against human AChE and BChE. IC50 values were estimated for several of the most active compounds, with pyridine-containing hydroxy derivative 8 exhibiting affinity toward BChE (IC50 2.76 µM), similar to that for clinically used cholinesterase inhibitors. In silico analyses suggest that hydrophobic interactions with key amino-acid residues predominantly govern the binding of these compounds within the enzyme's active site.
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Integrated pathological assessment and multi-omics analysis of the effects of Pinellia ternata aqueous extract on lung and spleen dysfunction in a rat model of phlegm-dampness obstruction.
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Scientific reportsHepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.
Journal of inherited metabolic diseaseChemical synthesis of site-selective advanced glycation end products in α-synuclein and its fragments.
Organic & biomolecular chemistryRice-Magnaporthe oryzae interactions in resistant and susceptible rice cultivars under panicle blast infection based on defense-related enzyme activities and metabolomics.
PloS oneEvaluation of Antitumor Activity of Xanthones Conjugated with Amino Acids.
International journal of molecular sciencesLow molecular weight acids and OATP1B mediated hepatic clearance: In vitro and in vivo evaluation using novel hypoxia-inducible factor prolyl hydroxylase inhibitors (Dustats).
Drug metabolism and disposition: the biological fate of chemicalsParallel Metabolomics and Lipidomics of a PSMA/GCPII Deficient Mouse Model Reveal Alteration of NAAG Levels and Brain Lipid Composition.
ACS chemical neuroscienceIntegrated network pharmacology, metabolomics, and transcriptomics of Huanglian-Hongqu herb pair in non-alcoholic fatty liver disease.
Journal of ethnopharmacologySelective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.
Frontiers in geneticsDual-emissive europium doped UiO-66-based ratiometric light-up biosensor for highly sensitive detection of histidinemia biomarker.
Analytica chimica actaAminoacylase 1 deficiency: case report on three affected siblings.
AME case reportsAluminum Supplementation Mediates the Changes in Tea Plant Growth and Metabolism in Response to Calcium Stress.
International journal of molecular sciencesShank3 Deficiency Results in a Reduction in GABAergic Postsynaptic Puncta in the Olfactory Brain Areas.
Neurochemical researchCharacterization of Metabolite Landscape Distinguishes Medicinal Fungus Cordyceps sinensis and other Cordyceps by UHPLC-Q Exactive HF-X Untargeted Metabolomics.
Molecules (Basel, Switzerland)Phenylalanine-based fibrillar systems.
Chemical communications (Cambridge, England)Gamma-Aminobutyric Acid Accumulation Contributes to Citrus sinensis Response against 'Candidatus Liberibacter Asiaticus' via Modulation of Multiple Metabolic Pathways and Redox Status.
Plants (Basel, Switzerland)Global Proteome-Wide Analysis of Cysteine S-Nitrosylation in Toxoplasma gondii.
Molecules (Basel, Switzerland)Dynamics and ecological reassembly of the human gut microbiome and the host metabolome in response to prolonged fasting.
Frontiers in microbiologyToxicity of decabromodiphenyl ethane on lettuce: Evaluation through growth, oxidative defense, microstructure, and metabolism.
Environmental pollution (Barking, Essex : 1987)Evaluation of the Neuroprotective Effect of Organic Selenium Compounds: An in Vitro Model of Alzheimer's Disease.
Biological trace element researchAmino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Molecular genetics & genomic medicineGlutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
International journal of molecular sciencesMetabolic Differences in Diabetic Kidney Disease Patients with Normoalbuminuria versus Moderately Increased Albuminuria.
Kidney360High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
NeurogeneticsNontoxic Levels of Se-Containing Compounds Increase Survival by Blocking Oxidative and Inflammatory Stresses via Signal Pathways Whereas High Levels of Se Induce Apoptosis.
Molecules (Basel, Switzerland)Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Clinica chimica acta; international journal of clinical chemistryVitamin B2 enables regulation of fasting glucose availability.
eLifeImprovement effect of biochar on soil microbial community structure and metabolites of decline disease bayberry.
Frontiers in microbiologyPathological characteristics of axons and proteome patterns in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.
Research squareTuberculosis is associated with sputum metabolome variations, irrespective of patient sex or HIV status: an untargeted GCxGC-TOFMS study.
Metabolomics : Official journal of the Metabolomic SocietyAspartate-glutamate carrier 2 (citrin): a role in glucose and amino acid metabolism in the liver.
BMB reportsChallenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Molecular genetics and metabolismBiomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Journal of inherited metabolic diseaseEngineered Synthetic STxB for Enhanced Cytosolic Delivery.
CellsNew insights into the pathophysiology of methylmalonic acidemia.
Journal of inherited metabolic diseaseNAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
International journal of molecular sciencesMetabolic pathways altered by air pollutant exposure in association with lipid profiles in young adults.
Environmental pollution (Barking, Essex : 1987)Metabolomic Analysis of Respiratory Epithelial Lining Fluid in Patients with Chronic Obstructive Pulmonary Disease-A Systematic Review.
CellsChemical Synthesis of Alpha-Synuclein Proteins via Solid-Phase Peptide Synthesis and Native Chemical Ligation.
Chemistry (Weinheim an der Bergstrasse, Germany)Unravelling inclusion body myositis using a patient-derived fibroblast model.
Journal of cachexia, sarcopenia and muscleLaboratory and metabolic investigations.
Handbook of clinical neurologyRapid and Quantitative Enrichment of Peptides from Plasma for Mass Spectrometric Analysis.
Methods in molecular biology (Clifton, N.J.)Chemically diverse activity-based probes with unexpected inhibitory mechanisms targeting trypsin-like serine proteases.
Frontiers in chemistryComprehensive metabolomics and lipidomics profiling uncovering neuroprotective effects of Ginkgo biloba L. leaf extract on Alzheimer's disease.
Frontiers in pharmacologyInborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Indian pediatricsShort Peptoid Evolved from the Key Hydrophobic Stretch of Amyloid-β42 Peptide Serves as a Potent Therapeutic Lead of Alzheimer's Disease.
ACS chemical neuroscienceAmyotrophic Lateral Sclerosis-Associated Persistent Organic Pollutant cis-Chlordane Causes GABAA-Independent Toxicity to Motor Neurons, Providing Evidence toward an Environmental Component of Sporadic Amyotrophic Lateral Sclerosis.
ACS chemical neuroscienceRational Design of a Peptidomimetic Inhibitor of Gelsolin Amyloid Aggregation.
International journal of molecular sciencesObservational and clinical evidence that plant-based nutrition reduces dietary acid load.
Journal of nutritional scienceEvaluation of critical factors in the preparation of saliva sample from healthy subjects for metabolomics.
Journal of pharmaceutical and biomedical analysisPaeoniae Radix Rubra can enhance fatty acid β-oxidation and alleviate gut microbiota disorder in α-naphthyl isothiocyanate induced cholestatic model rats.
Frontiers in pharmacologyDehydration is associated with production of organic osmolytes and predicts physical long-term symptoms after COVID-19: a multicenter cohort study.
Critical care (London, England)Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Frontiers in geneticsEnergy consumption and intestinal microbiome disorders of yellow catfish (Pelteobagrus fulvidraco) under cold stress.
Frontiers in physiologyCase Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
International journal of molecular sciencesThe Combined Escherichia coli Nissle 1917 and Tryptophan Treatment Modulates Immune and Metabolome Responses to Human Rotavirus Infection in a Human Infant Fecal Microbiota-Transplanted Malnourished Gnotobiotic Pig Model.
mSphereLate-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Orphanet journal of rare diseasesNMR-based metabolomic analysis of human plasma to examine the effect of exposure to persistent organic pollutants.
ChemosphereThe Different Metabolic Responses of Resistant and Susceptible Wheats to Fusarium graminearum Inoculation.
MetabolitesAristolochic acid-induced nephropathy is attenuated in mice lacking the neutral amino acid transporter B0AT1 (Slc6a19).
American journal of physiology. Renal physiologyMetabolomics: A New Approach in the Evaluation of Effects in Human Beings and Wildlife Associated with Environmental Exposition to POPs.
Toxicsβ-Glucosidases as dominant dose-dependent regulators of Oryza sativa L. in response to typical organic pollutant exposures.
Environmental pollution (Barking, Essex : 1987)Circulating metabolite biomarkers: a game changer in the human prostate cancer diagnosis.
Journal of cancer research and clinical oncologyMechanism of ferroptosis in hypertensive nephropathy.
Translational andrology and urologyAberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Science translational medicineStructural insights into the HBV receptor and bile acid transporter NTCP.
NatureReview of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Metabolic brain diseaseSeventeen Ustilaginaceae High-Quality Genome Sequences Allow Phylogenomic Analysis and Provide Insights into Secondary Metabolite Synthesis.
Journal of fungi (Basel, Switzerland)The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.
Drug metabolism and personalized therapyNew Kids on the Block: Bile Salt Conjugates of Microbial Origin.
MetabolitesMetabolomics in endometriosis: challenges and perspectives for future studies.
Reproduction & fertilityCalpain activation and progression of inflammatory cycles in Parkinson's disease.
Frontiers in bioscience (Landmark edition)Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
American journal of medical genetics. Part ACrystal structure of a putative short-chain dehydrogenase/reductase from Paraburkholderia xenovorans.
Acta crystallographica. Section F, Structural biology communicationsCreatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.
Journal of inherited metabolic diseaseTransient Insulin Resistance in Propionic Acidaemia: Knowing is half the battle.
Sultan Qaboos University medical journalMultiomics analysis of soybean meal induced marine fish enteritis in juvenile pearl gentian grouper, Epinephelus fuscoguttatus ♀ × Epinephelus lanceolatus ♂.
Scientific reportsTowards risk stratification and prediction of disease severity and mortality in COVID-19: Next generation metabolomics for the measurement of host response to COVID-19 infection.
PloS oneStructural determinants of ligands recognition by the human mitochondrial basic amino acids transporter SLC25A29. Insights from molecular dynamics simulations of the c-state.
Computational and structural biotechnology journalClinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesCSF Metabolomics of Tuberculous Meningitis: A Review.
MetabolitesSARS-CoV-2 promotes RIPK1 activation to facilitate viral propagation.
Cell researchMetabolome-wide association study of serum exogenous chemical residues in a cohort with 5 major chronic diseases.
Environment internationalA Proton-Coupled Transport System for β-Hydroxy-β-Methylbutyrate (HMB) in Blood-Brain Barrier Endothelial Cell Line hCMEC/D3.
NutrientsMetabolomics in the Diagnosis and Prognosis of COVID-19.
Frontiers in geneticsReduced Expression of Slc Genes in the VTA and NAcc of Male Mice with Positive Fighting Experience.
GenesComparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
JAMA network open[Liquid chromatography-mass spectrometry-based metabolomics study of the efficacy of Chinese medicine asthma-relieving decoction on respiratory syncytial virus infection].
Se pu = Chinese journal of chromatographyInduction of anxiolytic, antidepressant and analgesic effects by Shiff base of (E)-3-(1H-imidazol-4-yl)-2-((2-oxoindolin-3-ylidene)amino)propanoic acid derivatives in diabetic rats.
Journal of diabetes and metabolic disordersThe Relevance of Plant-Derived Se Compounds to Human Health in the SARS-CoV-2 (COVID-19) Pandemic Era.
Antioxidants (Basel, Switzerland)Late-onset methylmalonic acidemia and homocysteinemia.
Nutricion hospitalariaDecreased Expression of Ileal Thyroid Hormone Transporters in a Hypothyroid Patient: A Case Report.
Frontiers in endocrinologyPrediction of Type 1 Diabetes at Birth: Cord Blood Metabolites vs Genetic Risk Score in the Norwegian Mother, Father, and Child Cohort.
The Journal of clinical endocrinology and metabolismMetabolomic Patterns of Septoria Canker Resistant and Susceptible Populus trichocarpa Genotypes 24 Hours Postinoculation.
Phytopathology1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genetics in medicine : official journal of the American College of Medical GeneticsMegasphaera lornae sp. nov., Megasphaera hutchinsoni sp. nov., and Megasphaera vaginalis sp. nov.: novel bacteria isolated from the female genital tract.
International journal of systematic and evolutionary microbiologyAutism: Screening of inborn errors of metabolism and unexpected results.
Autism research : official journal of the International Society for Autism ResearchDual targeting of polyamine synthesis and uptake in diffuse intrinsic pontine gliomas.
Nature communicationsMetabolic responses of whiteleg shrimp to white spot syndrome virus (WSSV).
Journal of invertebrate pathologyMolecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria.
Free radical researchGlutamatergic System is Affected in Brain from an Hyperthermia-Induced Seizures Rat Model.
Cellular and molecular neurobiologyComprehensive metabolic profiling of Parkinson's disease by liquid chromatography-mass spectrometry.
Molecular neurodegenerationPancreatic involvement in patients with inborn errors of metabolism.
Orphanet journal of rare diseasesAssociation Between Kidney Clearance of Secretory Solutes and Cardiovascular Events: The Chronic Renal Insufficiency Cohort (CRIC) Study.
American journal of kidney diseases : the official journal of the National Kidney FoundationA rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Orphanet journal of rare diseasesAn integrated study of metabolomics and transcriptomics to reveal the anti-primary dysmenorrhea mechanism of Akebiae Fructus.
Journal of ethnopharmacologyThe Differential Metabolic Profiles Between Deltamethrin-Resistant and -Susceptible Strains of Aedes albopictus (Diptera: Culicidae) by 1H-NMR.
Journal of medical entomologyLipidomic profiling of chorionic villi in the placentas of women with chronic venous disease.
International journal of medical sciencesDisrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus.
Antioxidants (Basel, Switzerland)Transporter Activity Changes in Nonalcoholic Steatohepatitis: Assessment with Plasma Coproporphyrin I and III.
The Journal of pharmacology and experimental therapeuticsBiochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Molecular genetics and metabolismLiquid-Chromatographic Methods for Carboxylic Acids in Biological Samples.
Molecules (Basel, Switzerland)Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Molecular genetics and metabolismMetabolomics analysis of bronchoalveolar lavage fluid samples in horses with naturally-occurring asthma and experimentally-induced airway inflammation.
Research in veterinary scienceLiver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
Journal of inherited metabolic diseaseDiscovery of a stable tripeptide targeting the N-domain of CRF1 receptor.
Amino acidsMetabolic characteristics of large and small extracellular vesicles from pleural effusion reveal biomarker candidates for the diagnosis of tuberculosis and malignancy.
Journal of extracellular vesiclesGut Microbiota and Metabolome Alterations Associated with Parkinson's Disease.
mSystemsDevelopment of a Tau-Targeted Drug Delivery System Using a Multifunctional Nanoscale Metal-Organic Framework for Alzheimer's Disease Therapy.
ACS applied materials & interfacesA Machine Learning Approach for the Automated Interpretation of Plasma Amino Acid Profiles.
Clinical chemistryMetabolome of canine and human saliva: a non-targeted metabolomics study.
Metabolomics : Official journal of the Metabolomic SocietyThe Essential Role of Selenoproteins in the Resolution of Citrobacter rodentium-Induced Intestinal Inflammation.
Frontiers in nutritionVariable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
Orphanet journal of rare diseasesAGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.
BiomoleculesMeasuring Interactions Between Tau and Aggregation Inducers with Single-Molecule Förster Resonance Energy Transfer.
Methods in molecular biology (Clifton, N.J.)Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Journal of inherited metabolic disease4-Methylpseudoproline analogues of cyclolinopeptide A: Synthesis, structural analysis and evaluation of their suppressive effects in selected immunological assays.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença do metabolismo dos aminoácidos ou proteínas 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
Ela é causada por alterações genéticas que prejudicam a função de enzimas ou de transportadores celulares de aminoácidos. Diversos genes estão descritos nessa afecção, como SLC3A1, SLC6A19, MTRR e MCCC2.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 9 publicações do grafo RarasNet (PubMed) · 5 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. (2026). Doença do metabolismo dos aminoácidos ou proteínas. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-do-metabolismo-dos-aminoacidos-ou-proteinas
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença do metabolismo dos aminoácidos ou proteínas
📋 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
