A acil-CoA desidrogenase é uma enzima que catalisa a primeira etapa da β-oxidação. A ação dessa classe de enzimas ocorre a partir da introdução de uma ligação dupla entre o C2(α) e o C3(β) do substrato acil-CoA graxo na mitocôndria das células. O dinucleótido de flavina e adenina (FAD) é utilizado como cofator dessa reação.
Introdução
O que você precisa saber de cara
Doença metabólica rara que causa fraqueza muscular fatigável, fadiga e espasmos, frequentemente associada a baixos níveis de carnitina. Pode manifestar-se com artrogripose distal, caquexia e, em crianças, convulsões febris e crises tônico-clônicas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 50 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 134 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição.
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:15159392, PubMed:15975918, PubMed:25416781). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP mo
Mitochondrion matrix
Glutaric aciduria 2B
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.
This enzyme has two activities: FAD diphosphatase activity and FAD synthase activity (PubMed:16643857, PubMed:21924249, PubMed:21951714, PubMed:23443125, PubMed:25135855, PubMed:26277395, PubMed:27259049, PubMed:31351152, PubMed:38688286). FAD diphosphatase acts on FAD and NADH to produce FMN and NMNH(2-), respectively (PubMed:26277395, PubMed:31351152, PubMed:38688286). FAD synthase catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme (PubM
NucleusMitochondrion matrixCytoplasm, cytosol
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neu
Mitochondrion inner membrane
Exercise intolerance, riboflavin-responsive
A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance.
Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:21237683, PubMed:2251268, PubMed:8823175). The first step of FAO consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physi
Mitochondrion matrix
Acyl-CoA dehydrogenase medium-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.
Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among
Mitochondrion matrix
Acyl-CoA dehydrogenase short-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed:27499296, PubMed:9334218). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabol
Mitochondrion matrix
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.
Accepts electrons from ETF and reduces ubiquinone
Mitochondrion inner membrane
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.
Variantes genéticas (ClinVar)
207 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,775 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 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 — Déficit de acil-CoA desidrogenase
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Outros ensaios clínicos
77 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
A critical concern of newborn screening (NBS) for very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is the difficulty of predicting clinical outcomes. To address this, we investigated neonatal C18:2-carnitine concentrations as a possible predictor of VLCADD phenotype. To investigate the impact of sex, gestational age (GA) at birth, sampling day and birth weight on C18:2-carnitine, we analyzed NBS-dried blood spots (DBS) from Dutch newborns born between 2018 and 2020 (n = 209.785). After normalization for resulting confounders, C18:2-carnitine concentrations were investigated in NBS-DBS (n = 15) and neonatal plasma (n = 35) of Dutch VLCADD-patients, and in German NBS-DBS (n = 6) and correlated with clinical severity and diagnostic assays. Results showed that C18:2-carnitine concentrations were affected by GA, sampling day, birth weight and, to a lesser extent, by sex. High C18:2-carnitine, normalized for GA, sampling day and birth weight, reliably identified all VLCADD-patients with (expected) severe phenotypes. The differentiating C18:2-carnitine was identified as linoleylcarnitine. In conclusion, this study shows that neonatal C18:2-carnitine concentrations can serve to predict disease severity directly after positive NBS for VLCADD. Patients with high C18:2-carnitine concentrations can be considered "severe" and require strict dietary treatment and close monitoring. Patients with low C18:2-carnitine concentrations can be identified as "mild" and only need preventive dietary measures.
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease status and clinical significance of IBDD remain under debate. We systematically studied all published cases of IBDD to provide an overview of the reported phenotype and molecular spectrum. A comprehensive literature review identified 172 individuals with IBDD reported up to December 2024. Seven children were diagnosed following selective screening due to family history or clinical suspicion, while 165 were identified through expanded newborn screening programs. Elevated blood or plasma C4-acylcarnitine was observed universally, and isobutyrylglycinuria was a common but not invariable urinary marker. Of these 172 individuals, 146 were asymptomatic at follow-up, whereas 26 presented with diverse, non-specific manifestations, including motor delay, failure to thrive, muscular hypotonia, speech delay, developmental delay, and anemia-the latter being the most frequently reported abnormality. Biallelic pathogenic variants in ACAD8 were identified in most cases with available genetic information, with c.286G > A p.(Gly96Ser) emerging as the most prevalent variant, predominantly among individuals of Chinese origin. Notably, altered biochemical markers of liver function were reported in 19 individuals, including 18 with isolated elevations of serum transaminases and γ-glutamyl transferase. One 11-year-old boy exhibited hepatomegaly and ultrasound findings suggestive of hepatic steatosis, along with markedly elevated transaminase levels. Hepatic steatosis has also been observed in an IBDD mouse model, suggesting a potential link between IBDD and liver involvement. Most individuals with IBDD remain asymptomatic following detection through newborn screening, yet a minority develop heterogeneous clinical features. Our overview highlights that some liver enzyme abnormalities and hepatic steatosis may occur in some individuals with IBDD. These findings suggest that further research is warranted to clarify possible hepatic implications of IBDD and to determine whether long-term monitoring of affected individuals should be considered, particularly in light of ongoing discussions about the appropriateness of IBDD as a target condition in newborn screening programs.
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child-bearing age. So far, little is known about the risk and outcome of pregnancies, particularly in women with more severe forms of lcFAODs. We performed an international web-based survey among health care professionals involved in the care of individuals with lcFAODs and collected data on 89 pregnancies in 39 women (mild VLCAD deficiency n = 8, severe VLCAD deficiency n = 10, LCHAD deficiency n = 4, CPT2 deficiency n = 14, CPT1 deficiency n = 3). There were 72 live births, 12 spontaneous miscarriages, and one stillbirth at 41 weeks of gestation. Four women were still pregnant at the time of the survey. In 25 women, the diagnosis was known before the first pregnancy, whereas 14 had at least one pregnancy before diagnosis. Most women remained metabolically stable during pregnancy, although 19% of women had at least one metabolic decompensation during pregnancy. Forty-one percent of babies were delivered by spontaneous vaginal delivery, 33% after induced labor, and 19% by an elective Caesarean section. Most deliveries were uncomplicated, with preventive i.v. glucose infusions given in 50%. However, 21% of mothers developed a metabolic decompensation in the postpartum period. No maternal deaths were reported. In conclusion, our data show that the outcome of pregnancies in lcFAOD patients is generally favorable, despite a significant risk of metabolic decompensation during the postpartum period.
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran.
2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBDD), also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a rare inborn error of metabolism classified as an organic acidemia. Early detection through neonatal screening is crucial to prevent irreversible complications. This study reports the first documented case of 2-MBDD in Iran, identified through the national neonatal screening program in 2022. Metabolic screening was performed on dried blood spots (DBS) using electrospray ionization tandem mass spectrometry (ESI-MS/MS). Urine organic acid analysis was conducted via gas chromatography-mass spectrometry (GC/MS). Comprehensive clinical assessments, including ophthalmologic and audiologic evaluations, electroencephalography (EEG), echocardiography, and brain magnetic resonance imaging (MRI), were performed. Whole-exome sequencing (WES) was used to confirm the diagnosis. A male neonate, delivered by cesarean section, was asymptomatic at birth. Initial metabolic screening revealed elevated 2-methylbutyrylcarnitine (C5) levels, confirmed by urine organic acid analysis and genetic testing, which identified a novel likely pathogenic variant in the ACADSB gene (c.907G > C; p.G303R). The infant was managed with a carnitine-supplemented diet and continued breastfeeding. Regular follow-ups demonstrated normal growth, neurodevelopmental milestones, and biochemical parameters, with no abnormalities detected. Post-treatment, C5 levels stabilized at 0.4 µmol/L, within the intermediate range. This case underscores the pivotal role of neonatal screening in the early diagnosis and management of rare metabolic disorders. Timely intervention can prevent severe complications and improve clinical outcomes, highlighting the need for expanded newborn screening programs and population-specific genetic studies.
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.
In this study, we aimed to assess clinical, laboratory and molecular features of newborns with clinical suspicion for systemic primary carnitine deficiency (CUD), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). The implementation of newborn screening programs for fatty acid β-oxidation disorders (FAODs) has changed the natural course of these diseases, facilitating the initiation of preventive or therapeutic measures for affected newborns shortly after birth. This study included 94 newborns who were admitted between 2016 and 2023 because of biochemical signs of CUD, MCADD and VLCADD, and provided clinical, biochemical and genotypic data. Definitive molecular diagnosis confirmed that 16/94 newborns (17%) were true positives of the NBS, and 17 novel variants were detected in SLC22A5, ACADM and ACADVL genes. We assessed the clinical evolution of patients over time. This study expands the genotypic spectrum of SLC22A5, ACADM and ACADVL and highlights the role of genetics in identifying and correctly characterising FAODs.
Publicações recentes
2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.
[Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies].
Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.
Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.
📚 EuropePMC635 artigos no totalmostrando 196
Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.
Genetics researchAcute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.
O&G openOutlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.
Clinical biochemistryNewborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Molecular genetics and metabolism reportsDirect Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal of inherited metabolic diseaseAn inducible Flad1 knockout mouse model establishes its essential role in energy metabolism, muscle function and adult survival.
Biochemical and biophysical research communicationsThe Complex Etiology of Sertraline-Induced Lipid Storage Myopathy and Acquired Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)-Like Syndromes: Hidden Genetic Variation, Nutritional Deficiency, and Mitochondrial Vulnerability.
Muscle & nerveEnergetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism.
The FEBS journalAcquired multiple acyl-CoA dehydrogenase deficiency (MADD) provoked by sertraline: an emerging and treatable disorder.
Practical neurologySpinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Neuromolecular medicineTachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype.
European journal of medical geneticsIsobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
Orphanet journal of rare diseasesPregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Journal of inherited metabolic diseaseEtoposide-Associated Severe Rhabdomyolysis in a Patient with Diffuse Large B-Cell Lymphoma: A case report and review of the literature.
Sultan Qaboos University medical journalIdentification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran.
Orphanet journal of rare diseasesComprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.
HeliyonLate-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.
Antioxidants (Basel, Switzerland)Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
International journal of neonatal screeningIncidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Frontiers in pediatricsPerioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.
Obesity surgeryMedium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.
Journal of mother and childSertraline-Associated Riboflavin-Responsive Lipid Storage Myopathy: Report of Two Case.
Muscle & nerveChallenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.
BMJ medicineFirst report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.
Orphanet journal of rare diseasesEffects of dietary management for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) on eating behaviour in childhood, adolescence and young adulthood.
BMC nutritionNewborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.
BMC pediatricsCaregivers' Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture.
International journal of neonatal screeningMedium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.
International journal of neonatal screeningHigh-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.
Scientific reportsPET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
BMC medical genomicsClinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.
Clinical geneticsPrevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.
International journal of neonatal screeningCharacterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.
Investigative ophthalmology & visual scienceRiboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies.
Frontiers in neurologyPractical challenges and ethical considerations in treating early-onset MADD with exogenous ketones.
Molecular genetics and metabolismIdentification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.
EndocrineClinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.
Molecular genetics and metabolismA Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
International journal of molecular sciencesMyopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.
Journal of inherited metabolic diseaseManagement of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.
MetabolitesLipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation.
Journal of proteome researchLate-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.
JIMD reportsCharacterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.
Molecular genetics & genomic medicineAdolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.
Frontiers in pediatricsEffective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.
Molecular genetics and metabolismA pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.
Expert review of clinical pharmacologyScreening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.
Journal of inherited metabolic diseaseExposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy.
Journal of the neurological sciencesThe difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.
Orphanet journal of rare diseasesVery long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.
Frontiers in geneticsC4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism.
Molecular genetics and metabolismLate-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: the Northern Ireland experience.
Neuromuscular disorders : NMDACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.
GenesNew insight in lipid storage myopathy.
Neuromuscular disorders : NMDCharacteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.
International journal of neonatal screeningThe Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.
Journal of investigative medicine high impact case reportsTransient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition.
BMJ case reportsLipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics.
Biochimica et biophysica acta. Molecular and cell biology of lipidsLong-term follow-up of eight patients with long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Acta ophthalmologicaEarly-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).
Children (Basel, Switzerland)A Review of Newborn Screening for VLCADD: The Wisconsin Experience.
International journal of neonatal screeningCarnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
International journal of molecular sciencesNewborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.
Molecular genetics and metabolismiPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Journal of inherited metabolic diseaseMedium-Chain Acyl-CoA Dehydrogenase Deficiency Disorder as a Cause of Acute Liver Failure in a 23-Month-Old Baby.
Journal of medical casesLate-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.
Neuromuscular disorders : NMDThe Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
BiomoleculesInsights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.
International journal of neonatal screeningMechanistic insights into impaired β-oxidation and its role in mitochondrial dysfunction: A comprehensive review.
Diabetes research and clinical practiceIdentification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
Orphanet journal of rare diseasesLate-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.
The NeurohospitalistA novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Intractable & rare diseases researchMedium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.
Journal of pediatric endocrinology & metabolism : JPEMEpidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.
Orphanet journal of rare diseasesNeonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report.
Frontiers in pediatrics2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
JIMD reportsAssessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.
Acta paediatrica (Oslo, Norway : 1992)Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.
NeuropediatricsDental Implications of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Comprehensive Case Report and Literature Review.
Clinical case reportsLipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.
Acta neuropathologicaVery-late-onset multiple Acyl-coenzyme a dehydrogenase deficiency with elevated GDF-15 and Aldolase: a case report.
Neuromuscular disorders : NMDPrevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.
International journal of neonatal screening[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMADD-like pattern of acylcarnitines associated with sertraline use.
Molecular genetics and metabolism reportsDeep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
International journal of molecular sciencesDiagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
Orphanet journal of rare diseasesFour novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.
Frontiers in geneticsFatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report.
World journal of clinical casesMultiple acyl-Coa dehydrogenase deficiency: an underdiagnosed disorder in adults.
Internal medicine journalLate-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient.
Journal of intensive medicineLong-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency.
Molecular genetics and metabolism reportsA compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.
Molecular genetics & genomic medicineMultiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
Journal of clinical neurology (Seoul, Korea)Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong.
CureusEfficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview.
Antioxidants (Basel, Switzerland)A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Orphanet journal of rare diseasesManagement and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
International journal of neonatal screeningNavigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.
Children (Basel, Switzerland)Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyRecurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Forensic science international. GeneticsStealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism reportsThe presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Clinical biochemistryUsing the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
International journal of neonatal screeningImpact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyTracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Orphanet journal of rare diseasesPlasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic diseaseHip Dysplasia in a Patient in Late Adolescence With Charcot-Marie-Tooth and Multiple Acyl-CoA Dehydrogenase Deficiency.
Journal of medical casesAnesthetic Management and Neuromonitoring in a Patient with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Undergoing Scoliosis Surgery: A Case Report and Review of Literature.
Case reports in anesthesiologyClinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet journal of rare diseasesAssessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC pediatricsNewborn screening for fatty acid oxidation disorders in a southern Chinese population.
HeliyonPsychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.
JIMD reports[Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSuper-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Indian journal of pediatricsStructural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Journal of biological physicsDrug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.
Indian journal of pediatricsNew perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings.
Journal of the neurological sciencesLong-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
European journal of neurologyVery-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
International journal of neonatal screeningThe First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.
Global medical genetics[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
Rinsho shinkeigaku = Clinical neurology"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.
Indian journal of clinical biochemistry : IJCBA case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.
International journal of rheumatic diseasesCase report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency.
Frontiers in pediatricsBiochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Molecular genetics and metabolism reportsPersonalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
BMC biologyHeptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism[Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Muscle & nerveCollaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Journal of inherited metabolic diseaseLow Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
MetabolitesRiboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
GenesMultiple Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis After Gastrointestinal Endoscopy.
Journal of clinical neurology (Seoul, Korea)[Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRiboflavin ameliorates pathological cardiac hypertrophy and fibrosis through the activation of short-chain acyl-CoA dehydrogenase.
European journal of pharmacologyUntargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.
International journal of molecular sciencesSuccessful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency.
Endocrinologia, diabetes y nutricionFunctional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
Biochimica et biophysica acta. Molecular basis of diseaseDetection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study.
Annals of medicine and surgery (2012)Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
BMJ case reportsMultiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.
ACG case reports journalMessenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Human molecular geneticsAcylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Current protocolsGeneration of an induced pluripotent stem cell (iPSC) line (INNDSUi002-A) from a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Stem cell researchMedium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening.
Irish medical journalHypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association.
Journal of pediatric endocrinology & metabolism : JPEMA Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report.
CureusVery long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.
Clinical biochemistryFree carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clinical geneticsIncidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Molecular genetics & genomic medicineDevelopment of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.
Analytical chemistry[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCase report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency.
Frontiers in pediatricsValidation of a targeted metabolomics panel for improved second-tier newborn screening.
Journal of inherited metabolic diseaseInborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Indian pediatricsA Remimazolam and Remifentanil Anesthetic for a Pediatric Patient With a Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.
A&A practiceMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.
The Malaysian journal of pathologyLipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
Frontiers in neurologySynthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Molecular genetics and metabolismA novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
American journal of medical genetics. Part ALate Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Treatable Neurometabolic Disorder.
Annals of Indian Academy of NeurologyDiverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Molecular genetics and metabolismRetrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Free radical researchCoenzyme Q10: Role in Less Common Age-Related Disorders.
Antioxidants (Basel, Switzerland)Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Molecular genetics and metabolism reportsAn unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
The journal of the Royal College of Physicians of EdinburghOdd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency.
Biochimica et biophysica acta. Molecular and cell biology of lipidsIncorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Clinica chimica acta; international journal of clinical chemistryCardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Pediatrics international : official journal of the Japan Pediatric SocietyThe clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Turkish journal of medical sciencesMedium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Endocrinology, diabetes & metabolismACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
GenesExpanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Frontiers in geneticsScreening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesClinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesScreening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesExpert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesLong-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Frontiers in pediatricsTandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
Methods in molecular biology (Clifton, N.J.)Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Clinica chimica acta; international journal of clinical chemistryNewborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
Journal of pediatric endocrinology & metabolism : JPEMA fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.
Italian journal of pediatricsEpilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Epilepsia openCombined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
JIMD reportsPlasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.
Journal of inherited metabolic diseaseCharacterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.
Balkan medical journal[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].
Zhonghua er ke za zhi = Chinese journal of pediatricsLymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Journal of clinical medicineFeatures and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Acta neurologica BelgicaVery Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.
Irish medical journalDefects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy.
Case reports in cardiologyThe frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Molecular genetics and metabolismNovel variant of ETFDH leading to multiple acyl-CoA dehydrogenase deficiency by promoting protein degradation via ubiquitin proteasome pathway.
Clinica chimica acta; international journal of clinical chemistryDiagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
Frontiers in neurologySudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
European journal of pediatricsAssociações
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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.
- Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
- Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
- Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
- Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran.
- Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.
- 2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.
- [Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies].
- Reply to the Complex Etiology of Sertraline-Induced Lipid Storage Myopathy and Acquired Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)-like Syndromes: Hidden Genetic Variation, Nutritional Deficiency, and Mitochondrial Vulnerability.
- Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.
- Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309120(Orphanet)
- MONDO:0017714(MONDO)
- GARD:21318(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787302(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