ArticleJournal of molecular medicine (Berlin, Germany)2011
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Article in Journal of molecular medicine (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- The 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 diseases · 2025Pooled it
- The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants.Cell communication and signaling : CCS · 2026Article
- PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.BMC medical genomics · 2025Review
- Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.JIMD reports · 2025Article
- Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.Orphanet journal of rare diseases · 2025Article
- Lipid deposition myopathy due to compound heterozygous mutation in theRheumatology advances in practice · 2025Article
- Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.Frontiers in pediatrics · 2025Article
- ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.Scientific reports · 2024Article
- Fatal multiple acyl-CoA dehydrogenase deficiency caused byWorld journal of clinical cases · 2024Article
- Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Newborn screening for fatty acid oxidation disorders in a southern Chinese population.Heliyon · 2024Article
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.Human mutation · 2023Article
- Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.Pharmacogenomics and personalized medicine · 2023Article
- Case report: NovelFrontiers in neurology · 2023Article
- Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D inMolecular genetics and metabolism reports · 2022Article
- The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.Turkish journal of medical sciences · 2022Article
- Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.Frontiers in neurology · 2022Article
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Authors and funding
5 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Multiple acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disease affecting amino acid, fatty acid, and choline metabolisms and is a common genetic defect responsible for lipid storage myopathy. Most forms of MADD are caused by a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). However, its molecular feature has not been found uniformly in previous reports of Chinese patients. A large cohort of 56 late-onset MADD patients from 51 unrelated pedigrees in southern China was recruited to investigate a clear correlation between clinical phenotype and molecular genetic basis. All exons of ETFA, ETFB, and ETFDH, including the intron-exon boundaries, and 5' and 3' untranslated regions were directly sequenced. ETFDH deficiencies affected 94.1% (48/51) of the pedigrees. ETFDH-c.250G>A is the most common mutation, representing a high allelic frequency of 83.3% (80/96). Carrier frequency of c.250G>A is estimated to be 1.35% (7/520) in the normal population. A significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients. ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation that could be employed as a fast and reliable screening method.
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