ArticleJournal of neurology2020
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study.European journal of neurology · 2026Article
- Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Electron-Transferring Flavoprotein and Its Dehydrogenase Required for Fungal Pathogenicity inInternational journal of molecular sciences · 2024Article
- A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.European journal of human genetics : EJHG · 2024Article
- Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.European journal of neurology · 2024Article
- The significance of machine learning in neonatal screening for inherited metabolic diseases.Frontiers in pediatrics · 2024Article
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.Translational pediatrics · 2023Article
- Case report: NovelFrontiers in neurology · 2023Article
- Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.Molecules (Basel, Switzerland) · 2022Review
- Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.Nature communications · 2022Article
- Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.Frontiers in neurology · 2022Article
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due toFrontiers in neurology · 2021Article
- Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.BMC neurology · 2020Article
- Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.Molecular genetics and metabolism reports · 2020Article
- Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
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12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Treatment with riboflavin and L-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.