É uma doença metabólica genética que ocorre devido a uma falha no processo de produção de lipoato.
Introdução
O que você precisa saber de cara
O defeito de biossíntese de ácido lipoico é uma condição genética rara em que o corpo tem dificuldade de produzir uma substância essencial chamada lipoato. Os sintomas costumam aparecer logo nos primeiros meses de vida ou na infância, manifestando-se por fraqueza muscular, crises convulsivas e episódios de hipoglicemia. O diagnóstico pode ser investigado por exames de urina e sangue e confirmado por meio de testes genéticos específicos. Não existe um medicamento curativo dispensado no SUS ou aprovado para esta doença, sendo o tratamento focado no controle dos sintomas e suporte multiprofissional.
É uma doença metabólica genética que ocorre devido a uma falha no processo de produção de lipoato.
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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
+ 158 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 348 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição.
Anemia, sideroblastic, 3, pyridoxine-refractory
A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.
Multiple mitochondrial dysfunctions syndrome 7
An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur.
Multiple mitochondrial dysfunctions syndrome 3
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
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.
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.
Multiple mitochondrial dysfunctions syndrome 10
An autosomal recessive disorder characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. Additional features include learning difficulties and neurobehavioral comorbidities. Some affected individuals have mild normocytic to macrocytic anemia. Brain imaging shows increased iron deposition in deep brain nuclei in some patients.
Hyperglycinemia, lactic acidosis, and seizures
An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine.
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.
Multiple mitochondrial dysfunctions syndrome 5
An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise.
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.
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
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 1
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
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.
Variantes genéticas (ClinVar)
211 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
24 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 — Defeito de biossíntese de ácido lipoico
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Dapagliflozin mitigates myocardial inflammation and metabolic stress in heart failure through STAT1 inhibition: Evidence from multi-omics analyses and experimental exploration.
Heart failure (HF) is a global health challenge with high morbidity and mortality. While dapagliflozin (DAPA), a sodium-glucose cotransporter 2 inhibitor, has proven clinical benefits in HF, its molecular mechanisms remain unclear. We integrated bulk and single-cell transcriptomic analyses with experimental validation to investigate the role of STAT1 in HF and its modulation by DAPA. Bulk RNA sequencing data from the GSE57345 dataset were analyzed for differential expression, enrichment, and weighted gene co-expression network analysis (WGCNA) to identify hub regulators. Single-cell RNA sequencing data (GSE145154) included normal controls (n = 4), dilated cardiomyopathy (DCM, n = 8), ischemic cardiomyopathy infarct regions (ICM_MI, n = 6), and non-infarct regions (ICM_NMI, n = 6), and were processed with Seurat and Harmony for integration, clustering, myeloid subcluster profiling, and AUCell pathway scoring. For in vivo validation, a rat model of myocardial infarction-induced HF was established and divided into control, HF, and HF+DAPA groups (6 mg/kg/day for 4 weeks). Histological examination, Western blotting, ELISA, flow cytometry, and serum bile acid assays were conducted. For in vitro assays, STAT1-overexpressing H9C2 cardiomyocytes were generated by lentiviral transduction. Cell viability (CCK‑8), STAT1 expression (qPCR and Western blot), and apoptosis (Annexin V/PI flow cytometry) were assessed with or without DAPA treatment. Transcriptomic analyses revealed widespread activation of bile acid, amino acid, and lipoic acid metabolic pathways in HF, coupled with immune remodeling dominated by increased M1 and reduced M2 macrophages. STAT1 emerged as a central hub gene linking metabolic stress and immune imbalance. Single-cell analysis confirmed aberrant STAT1 expression particularly in M1 and proliferating myeloid clusters. In vivo, DAPA suppressed myocardial STAT1 expression, alleviated inflammation, normalized macrophage polarization, and reduced cytokine and bile acid abnormalities. In vitro, DAPA rescued STAT1-overexpressing cardiomyocytes by restoring viability and reducing apoptosis. STAT1 acts as a pivotal mediator bridging metabolic disturbances and immune dysregulation in HF. DAPA alleviates HF by inhibiting STAT1 signaling, thereby restoring immunometabolic balance and protecting cardiac tissue. These findings provide mechanistic insight into the cardioprotective effects of DAPA and position STAT1 as a promising biomarker and potential therapeutic candidate for HF management.
α-Lipoic Acid Alleviates Non-Alcoholic Fatty Liver Disease by Elevating Chaperone-Mediated Autophagy and Increasing β-Oxidation via AMPK-TFEB Axis.
Non-alcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disorder associated with impaired lipid metabolism and oxidative stress. As a natural antioxidant and dithiol compound, α-lipoic acid (ALA) may play a beneficial role in modulating hepatic metabolism. This study investigates the potential mechanisms through which ALA may alleviate NAFLD. To construct an NAFLD model, NCTC 1469 cells were exposed to oleic acid and palmitic acid (OA/PA) and glucose for 24 h. RT-qPCR, Western blotting, and siRNA analyses were used to examine the effects and mechanisms of ALA. In vivo, C57BL/6J mice were fed a high-fat diet for 11 weeks and treated with ALA (200 mg/kg/day, intragastrical) for 4 weeks to evaluate its impact on NAFLD. In NCTC 1469 cells exposed to OA/PA and glucose, ALA markedly reduced lipid accumulation by activating TFEB, which in turn promoted fatty acid β-oxidation and chaperone-mediated autophagy (CMA). Furthermore, ALA activated NRF2-dependent CMA and mitigated oxidative stress. Inhibition of AMPK or silencing of TFEB/NRF2 abolished these effects, indicating the key role of the AMPK-TFEB/NRF2 axis. In HFD-fed mice, ALA alleviated hepatic steatosis, serum lipid abnormalities, and liver injury, consistent with its activation of CMA and β-oxidation and reduction in oxidative stress via this pathway. ALA synchronously activates CMA, β-oxidation, and antioxidant responses via a unified AMPK pathway to reduce lipid accumulation and oxidative stress, providing a mechanistically integrated therapeutic strategy for NAFLD.
Metabolic shifts, a consequence of hyperosmolarity, are a hallmark of mental disorders.
Mental and neurodevelopmental disorders are heterogeneous, complex, and overlapping entities. Despite progress, their neurobiological underpinnings are not well understood, and current treatments have limited efficacy. However, a growing number of studies have shown impaired brain and systemic energy metabolism evidenced by low-grade inflammation, metabolic syndrome, mitochondrial dysfunction, and abnormal glucose utilization, although their underlying mechanisms remain poorly understood. This paper reviews metabolic shifts in mental disorders, examines the underlying mechanisms driving these metabolic abnormalities in patient subgroups, and explores targeted therapeutic strategies. We argue here that this inflammation results in hyperosmolarity because of increased protein concentration in the extracellular fluid, resulting from vascular leakages. Hyperosmolarity exerts pressure on the capillaries resulting in altered blood flow (hypoperfusion and/or hyper perfusion). Another consequence of hyperosmolarity is metabolic shifts such as aerobic glycolysis. Hyperosmolarity is also responsible for releasing neurotransmitters such as serotonin, dopamine, glutamate, or gamma-aminobutyric acid (GABA). Drugs known to interfere with metabolism such as methylene blue and lipoic acid have been found to have antidepressant, anxiolytic, and neuroprotective effects (both in animals and in humans) in a large array of mental disorders. We suggest that metabolic shifts are a hallmark of mental disorders and that treatments aiming to alleviate these metabolic shifts may improve patients' prognoses. Mechanisms-based treatments should be tested in future clinical trials, where subgroups of patients characterized as having the most profoundly impaired metabolism should be included, following the rules of precision psychiatry.
A single-component photo-crosslinked chitosan hydrogel with inherent antimicrobial and antioxidant capabilities for wound healing.
The development of multifunctional chitosan-based hydrogels for wound healing often relies on complex compositions or external initiators, which can limit their clinical applicability. Herein, we report a novel chitosan-based hydrogel dressing (LQCS) engineered through a facile modification with lipoic acid (LA) and a quaternary ammonium salt (QAS), enabling intrinsic antibacterial and antioxidant activities without complex components. A key innovation of this system is its initiator-free, UV-triggered gelation via disulfide ring-opening polymerization of LA, which facilitates in situ formation and conformal coverage of irregular wounds. The integrated QAS moieties endow the hydrogel with excellent broad-spectrum antimicrobial activity, demonstrating bactericidal rates of 90.1% against Escherichia coli and 92.3% against Staphylococcus aureus. Simultaneously, the LA component confers remarkable antioxidant capacity, effectively scavenging reactive oxygen species (ROS) at the wound site. In a full-thickness skin defect model, the LQCS hydrogel significantly accelerated wound closure by mitigating inflammation and promoting angiogenesis. This study presents a simple yet effective strategy for creating an all-in-one hydrogel dressing, which integrates green fabrication, multi-bioactivity, and pro-healing functions, holding great potential for advanced wound care.
An Injectable and Modular NO-Adaptive Delivery System for Modulating Regenerative Microenvironment in Long-Segment Nerve Injury.
Repairing long-segment peripheral nerve injuries remains a significant clinical challenge, hindered by oxidative stress, inflammation, insufficient revascularization, and limited axonal regeneration speeds. This study addresses these barriers by reconstructing the nerve regeneration microenvironment, enhancing cell migration, and accelerating axonal growth. An integrated regenerative microenvironment combining chemical signals, micro/nano structures, and electrical stimulation is developed. Specifically, nitric oxide (NO), a versatile signaling molecule, is dynamically released using sustained and responsive-release strategies to regulate oxidative stress and inflammation effectively. Furthermore, a gelatin-lipoic acid-seleno-lipoic acid (Gel-LA-SA) microgel-based hydrogel is designed, forming interconnected macroporous scaffolds that significantly enhance cell infiltration and growth compared to traditional hydrogels. Additionally, a non-invasive electroactive conduit is constructed to provide external electrical stimulation, promoting nerve cell migration and nerve growth factor secretion. Together, these elements guide axonal regeneration, support rapid revascularization, and enhance nutrient supply. By integrating NO signaling, advanced hydrogel scaffolds, and electrical stimulation, this multifunctional conduit effectively addresses the critical barriers to regenerating nerves across extensive defect sites, offering a promising approach for repairing long-segment peripheral nerve injuries and providing insights into broader applications for neurological disease treatment and tissue regeneration.
Publicações recentes
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).
NEDD4L induces mitochondrial dysfunction and neurodegeneration by promoting LIPT2 degradation in Huntington's disease.
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
A hub for regulation of mitochondrial metabolism: Fatty acid and lipoic acid biosynthesis.
📚 EuropePMCmostrando 111
Dapagliflozin mitigates myocardial inflammation and metabolic stress in heart failure through STAT1 inhibition: Evidence from multi-omics analyses and experimental exploration.
PloS oneα-Lipoic Acid Alleviates Non-Alcoholic Fatty Liver Disease by Elevating Chaperone-Mediated Autophagy and Increasing β-Oxidation via AMPK-TFEB Axis.
NutrientsMetabolic shifts, a consequence of hyperosmolarity, are a hallmark of mental disorders.
Journal of psychiatric researchA single-component photo-crosslinked chitosan hydrogel with inherent antimicrobial and antioxidant capabilities for wound healing.
Journal of materials chemistry. BAn Injectable and Modular NO-Adaptive Delivery System for Modulating Regenerative Microenvironment in Long-Segment Nerve Injury.
Advanced materials (Deerfield Beach, Fla.)Mitochondria-targeting compounds for management of metabolic and hemostatic abnormalities associated with heart dysfunctions in experimental type 2 diabetes.
Endocrine regulationsLight responsive chitosan hydrogel incorporated with PCN-224@berberine for antibiotic resistant bacterial infected wound management.
International journal of biological macromoleculesROS/Glucose-Dissociable EGCG-Coated Oxygen-Supplying Nanocomposite Hydrogel for Diabetic Wound Therapy.
International journal of nanomedicineAlpha-lipoic acid reduces oxidative damage and ameliorates follicular abnormalities in vitrified cat ovarian tissue.
Frontiers in endocrinologyHydrogen-releasing electroactive nerve guidance conduits promote peripheral nerve regeneration by remodeling the microenvironment.
BiomaterialsMetabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.
Clinical and translational medicineAlpha-lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia.
Orphanet journal of rare diseasesPyruvate dehydrogenase complex component B: A Gene Associated with Cuproptosis and Encoding the Beta Subunit of Pyruvate Dehydrogenase Is Involved in the Oxidative Decarboxylation Reaction.
DNA and cell biologyCopper metabolism and cuproptosis: broad perspectives in the treatment of hepatocellular carcinoma.
Frontiers in oncologyRole of Morin & Alpha-Lipoic Acid in Diabetic Neuropathic Pain.
Central nervous system agents in medicinal chemistryLon1 Protease Controls PentatricoPeptide-Repeat (PPR)-Mediated RNA Processing in Arabidopsis Mitochondria.
Journal of experimental botanyTargeting GPX4-Dependent Ferroptosis via a Dihydroartemisinin-Conjugated Cross-Linked Lipoic Acid Nanodrug for Endometrial Carcinoma Therapy.
Bioconjugate chemistryROS/pH Dual-Responsive Hydrogel Dressings Loaded with Amphiphilic Structured Nano Micelles for the Repair of Infected Wounds.
International journal of nanomedicinePoly(thioctic acid)-based supramolecular hydrogels with UV-triggered on-demand H2S release for burn wound healing.
Journal of controlled release : official journal of the Controlled Release SocietyFruit-specific overexpression of lipoyl synthase increases both bound and unbound lipoic acid and alters the metabolome of tomato fruits.
Frontiers in plant scienceTime-resolved mitochondrial screen identifies regulatory components of oxidative metabolism.
EMBO reportsRole of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.
Molecular genetics and metabolismA narrative literature review about alpha-lipoic acid role in dry eye and ocular surface disease.
Acta ophthalmologicaManagement of Oxidative Stress and Inflammation in Patients with Symptomatic Dry Eye Disease Treated with a Preservative-Free Ophthalmic Emulsion Combining Alpha-Lipoic Acid and High Molecular Weight Sodium Hyaluronate.
Advances in therapyA narrative review on diagnosis and treatment of ifosfamide-induced encephalopathy, the perspective of a EURACAN reference center for sarcomas.
Frontiers in pharmacologyExpanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.
American journal of medical genetics. Part AConstruction of Nanohydroxyapatite/Poly(sodium lipoate)-Based Bioactive Hydrogels for Cranial Bone Regeneration.
BiomacromoleculesEngineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency.
The Journal of biological chemistryEffects of alpha-lipoic acid and sildenafil citrate on sperm quality in asthenozoospermic men during freezing-thawing processes.
CryobiologyDefects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.
International journal of molecular sciencesA Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models.
Antioxidants (Basel, Switzerland)Exploration of dietary interventions to treat mitochondrial fatty acid disorders in a mouse model.
The Journal of nutritional biochemistryCeria Nanoparticle Systems Alleviate Degenerative Changes in Mouse Postovulatory Aging Oocytes by Reducing Oxidative Stress and Improving Mitochondrial Functions.
ACS nanoPersistent Insulin Autoimmune Syndrome in a Caucasian Male in the Absence of Triggers.
CureusThe emerging importance of the α-keto acid dehydrogenase complexes in serving as intracellular and intercellular signaling platforms for the regulation of metabolism.
Redox biologyProtective effect of alpha‑lipoic acid against in utero cytarabine exposure-induced hepatotoxicity in rat female neonates.
Naunyn-Schmiedeberg's archives of pharmacologyClinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
JIMD reportsTargeting the Metabolic Paradigms in Cancer and Diabetes.
BiomedicinesNovel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Journal of human geneticsClinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Molecular genetics and metabolismRecessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Journal of medical geneticsAberrant expression of cuproptosis‑related gene LIPT1 is associated with metabolic dysregulation of fatty acid and prognosis in hepatocellular carcinoma.
Journal of cancer research and clinical oncologyUnderstanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
International journal of molecular sciencesα-Lipoic acid eliminates dioxin-induced offspring sexual immaturity by improving abnormalities in folic acid metabolism.
Biochemical pharmacologyAn engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration.
Nature communicationsScavenging ROS and inflammation produced during treatment to enhance the wound repair efficacy of photothermal injectable hydrogel.
Biomaterials advancesDiverse impact of N-acetylcysteine or alpha-lipoic acid supplementation during high-fat diet regime on fatty acid transporters in visceral and subcutaneous adipose tissue.
Advances in medical sciencesNutraceuticals/Drugs Promoting Mitophagy and Mitochondrial Biogenesis May Combat the Mitochondrial Dysfunction Driving Progression of Dry Age-Related Macular Degeneration.
NutrientsThe Effect of α-Lipoic Acid on Oxidative Stress in Adipose Tissue of Rats with Obesity-Induced Insulin Resistance.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyAlpha-lipoic acid improved motor function in MPTP-induced Parkinsonian mice by reducing neuroinflammation in the nigral and spinal cord.
Neuroscience lettersFunctional characterization of the first lipoyl-relay pathway from a parasitic protozoan.
Molecular microbiologyMitochondrial iron-sulfur cluster biogenesis and neurological disorders.
MitochondrionA Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
BiomedicinesModulation of the fecal microbiome and metabolome by resistant dextrin ameliorates hepatic steatosis and mitochondrial abnormalities in mice.
Food & functionInactivation of genes in oxidative respiration and iron acquisition pathways in pediatric clinical isolates of Small colony variant Enterobacteriaceae.
Scientific reportsWhole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
MitochondrionAlpha-lipoic acid ameliorates cytarabine-induced developmental anomalies in rat fetus.
Human & experimental toxicologyFriedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Translational research : the journal of laboratory and clinical medicineAlpha-lipoic acid effectively attenuates ionizing radiation-mediated testicular dysfunction in rats: Crosstalk of NF-ĸB, TGF-β, and PPAR-ϒ pathways.
ToxicologyMitochondrial Fatty Acids and Neurodegenerative Disorders.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatryCore-crosslinked nanomicelles based on crosslinkable prodrug and surfactants for reduction responsive delivery of camptothecin and improved anticancer efficacy.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesMitochondrial lipoylation integrates age-associated decline in brown fat thermogenesis.
Nature metabolismImpact of sunflower (Helianthus annuus L.) plastidial lipoyl synthases genes expression in glycerolipids composition of transgenic Arabidopsis plants.
Scientific reportsMitochondrial Fatty Acid Synthase Utilizes Multiple Acyl Carrier Protein Isoforms.
Plant physiologyMetabolic treatments of migraine.
Expert review of neurotherapeuticsIncreased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Pediatric researchThe effects of alpha-lipoic acid supplementation on fasting glucose and lipid profiles among patients with stroke: a systematic review and meta-analysis of randomized controlled trials.
Journal of diabetes and metabolic disordersInsights on the Use of α-Lipoic Acid for Therapeutic Purposes.
BiomoleculesStaphylococcus aureus Lipoic Acid Synthesis Limits Macrophage Reactive Oxygen and Nitrogen Species Production To Promote Survival during Infection.
Infection and immunityUnravelling the lipoyl-relay of exogenous lipoate utilization in Bacillus subtilis.
Molecular microbiologyiPSC-derived homogeneous populations of developing schizophrenia cortical interneurons have compromised mitochondrial function.
Molecular psychiatryDiselenolane-Mediated Cellular Uptake: Efficient Cytosolic Delivery of Probes, Peptides, Proteins, Artificial Metalloenzymes and Protein-Coated Quantum Dots.
Chemistry (Weinheim an der Bergstrasse, Germany)Alpha lipoic acid protects against dexamethasone-induced metabolic abnormalities via APPL1 and PGC-1 α up regulation.
SteroidsThe effect of alpha lipoic acid on uterine wound healing after primary cesarean section: a triple-blind placebo-controlled parallel-group randomized clinical trial.
Archives of gynecology and obstetricsEvidence that Thiosulfate Inhibits Creatine Kinase Activity in Rat Striatum via Thiol Group Oxidation.
Neurotoxicity researchNutritional support in mitochondrial diseases: the state of the art.
European review for medical and pharmacological sciencesProtein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymes.
Proceedings of the National Academy of Sciences of the United States of AmericaConserved functions of Arabidopsis mitochondrial late-acting maturation factors in the trafficking of iron‑sulfur clusters.
Biochimica et biophysica acta. Molecular cell researchAntioxidants retard the ageing of mouse oocytes.
Molecular medicine reportsISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Human molecular geneticsBiochemical Analyses of Human Iron-Sulfur Protein Biogenesis and of Related Diseases.
Methods in enzymologyImpaired endocrine-metabolic homeostasis: underlying mechanism of its induction by unbalanced diet.
Clinical science (London, England : 1979)Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice.
FEBS lettersTherapies for mitochondrial diseases and current clinical trials.
Molecular genetics and metabolismIBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Neurology. GeneticsEffects of ivermectin and its combination with alpha lipoic acid on expression of IGFBP-3 and HSPA1 genes and male rat fertility.
AndrologiaControl-released Alpha-lipoic acid-loaded PLGA microspheres enhance bone formation in type 2 diabetic rat model.
International journal of clinical and experimental pathologyImpact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Molecular genetics and metabolismBiallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
American journal of human geneticsMis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death.
PloS oneNitric oxide induces monosaccharide accumulation through enzyme S-nitrosylation.
Plant, cell & environmentα-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria.
Nature medicineα-Lipoic acid potentially targets AMP-activated protein kinase and energy production in the fetal brain to ameliorate dioxin-produced attenuation in fetal steroidogenesis.
The Journal of toxicological sciencesMitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Neurosciences (Riyadh, Saudi Arabia)Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Journal of neurologyα-Lipoic acid attenuates transplacental nicotine-induced germ cell and oxidative DNA damage in adult mice.
Journal of basic and clinical physiology and pharmacologyDifferential diagnosis of lipoic acid synthesis defects.
Journal of inherited metabolic diseaseLipoic acid and Calligonum comosumon attenuate aroclor 1260-induced testicular toxicity in adult rats.
Environmental toxicologyOxidative stress increases the risk of pancreatic β cell damage in chronic renal hypertensive rats.
Physiological reportsMitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.
eLifeThe Physiological and Molecular Characterization of a Small Colony Variant of Escherichia coli and Its Phenotypic Rescue.
PloS oneRadical S-Adenosylmethionine Enzymes in Human Health and Disease.
Annual review of biochemistryRoles of Fe-S proteins: from cofactor synthesis to iron homeostasis to protein synthesis.
Current opinion in genetics & developmentMitochondrial Dysfunction in Schizophrenia: Determination of Mitochondrial Respiratory Activity in a Two-Hit Mouse Model.
Journal of molecular neuroscience : MNType 1 5'-deiodinase activity is inhibited by oxidative stress and restored by alpha-lipoic acid in HepG2 cells.
Biochemical and biophysical research communicationsZAP1-mediated modulation of triacylglycerol levels in yeast by transcriptional control of mitochondrial fatty acid biosynthesis.
Molecular microbiologyIntra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
American journal of human geneticsEffects of α-lipoic acid therapy on sympathetic heart innervation in patients with previous experience of transient takotsubo cardiomyopathy.
Journal of cardiologyLipoic acid and pentoxifylline mitigate nandrolone decanoate-induced neurobehavioral perturbations in rats via re-balance of brain neurotransmitters, up-regulation of Nrf2/HO-1 pathway, and down-regulation of TNFR1 expression.
Hormones and behaviorMitochondrial Pharmaceutics: A New Therapeutic Strategy to Ameliorate Oxidative Stress in Alzheimer's Disease.
Current aging scienceClinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Frontiers in geneticsAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Defeito de biossíntese de ácido lipoico 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 doença é causada por alterações genéticas em genes que participam da produção do lipoato mitocondrial, como LIAS, LIPT1 e DLD. Essas alterações impedem a síntese correta dessa substância, afetando o funcionamento das células.
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.). Defeito de biossíntese de ácido lipoico. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/defeito-de-biossintese-de-acido-lipoico
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Defeito de biossíntese de ácido lipoico
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- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
