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
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.
Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084)
Mitochondrion matrix
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.
The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase com
Mitochondrion
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.
Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway (PubMed:22323289, PubMed:23462291). Operates in cooperation with ISCA2 in the maturation of [4Fe-4S] proteins (PubMed:30269484) Involved in the maturation of mitochondrial 2Fe-2S proteins in the late stage of the iron-sulfur cluster assembly pathway
Mitochondrion
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.
Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver (By similarity). Also acts as a ferredoxin--NADP(+) reductase essential for coenzyme Q biosynthesis: together with FDX2, transfers the electrons required for the hydroxylation reaction performed by C
MitochondrionMitochondrion inner membrane
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.
Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2) (PubMed:29987032). Unable to catalyze the transfer of octanoyl from octanoyl-GCSH to PDCE2 (PubMed:29987032). In vitro, it is also able to catalyze the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes but this reaction may not
Mitochondrion
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.
Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004, PubMed:38950322). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cyto
Cytoplasm
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.
Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives
Mitochondrion
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.
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also locali
Mitochondrion matrixNucleusCell projection, cilium, flagellumCytoplasmic vesicle, secretory vesicle, acrosome
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.
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly
Mitochondrion
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.
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly
Mitochondrion
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.
Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772)
Mitochondrion
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.
Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088)
Mitochondrion matrix
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.
Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins
MitochondrionCytoplasm, cytosol
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.
Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Displays a preference for medium-chain over short- and long-chain substrates (PubMed:12654921, PubMed:18479707, PubMed:27817865). May provide the octanoyl chain used for lipoic acid bio
MitochondrionCytoplasmNucleus
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
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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.
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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.
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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.
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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.
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ACS nanoPersistent Insulin Autoimmune Syndrome in a Caucasian Male in the Absence of Triggers.
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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.
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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.
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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.
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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.
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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.
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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.
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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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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Dapagliflozin mitigates myocardial inflammation and metabolic stress in heart failure through STAT1 inhibition: Evidence from multi-omics analyses and experimental exploration.
- α-Lipoic Acid Alleviates Non-Alcoholic Fatty Liver Disease by Elevating Chaperone-Mediated Autophagy and Increasing β-Oxidation via AMPK-TFEB Axis.
- Metabolic shifts, a consequence of hyperosmolarity, are a hallmark of mental disorders.
- A single-component photo-crosslinked chitosan hydrogel with inherent antimicrobial and antioxidant capabilities for wound healing.
- An Injectable and Modular NO-Adaptive Delivery System for Modulating Regenerative Microenvironment in Long-Segment Nerve Injury.
- 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:401854(Orphanet)
- MONDO:0018424(MONDO)
- GARD:12679(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788073(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
