ArticleJIMD reports2018
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 33 citations in OpenAlex.
- Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study.Orphanet journal of rare diseases · 2026Article
- Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency.World journal of pediatrics : WJP · 2026Article
- Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.Antioxidants (Basel, Switzerland) · 2025Article
- PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.BMC medical genomics · 2025Review
- Lipid deposition myopathy due to compound heterozygous mutation in theRheumatology advances in practice · 2025Article
- Electron-Transferring Flavoprotein and Its Dehydrogenase Required for Fungal Pathogenicity inInternational journal of molecular sciences · 2024Article
- The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.Turkish journal of medical sciences · 2022Article
- Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.The Journal of international medical research · 2022Review
- Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.Frontiers in neurology · 2022Article
- Role of RNA in Molecular Diagnosis of MADD Patients.Biomedicines · 2021Article
- Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?Brain sciences · 2021Review
- Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.Frontiers in pediatrics · 2021Article
- Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.Molecular medicine reports · 2020Article
- A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.BMC medical genetics · 2020Article
- Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.European journal of translational myology · 2020Article
- Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.European journal of translational myology · 2020Article
- Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.World journal of clinical cases · 2020Article
- A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.Frontiers in pediatrics · 2020Article
- Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.BMC neurology · 2019Article
- Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state.In the present series of cases, five novel mutations have been identified in the ETFDH gene. We propose clinical guidelines to screen patients with LSM due to different defects, in order to obtain a fast diagnosis and offer appropriate treatment. In such patients, early diagnosis and treatment as well as avoiding risk factors are part of clinical management.Specific biochemical studies are indicated to identify the type of LSM, such as level of free carnitine and acyl-carnitines and studies or organic acidemia. Indeed, when a patient is biochemically diagnosed with secondary carnitine deficiency, a follow-up with appropriate clinical-molecular protocol and genetic analysis is important to establish the final diagnosis, since riboflavin can be supplemented with benefit if riboflavin-responsive MADD is present. In muscle biopsies, increased lipophagy associated with p62-positive aggregates was observed. The clinical improvement can be attributed to the removal of an autophagic block, which appears to be reversible in this LSM.
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