title: A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.
abstract: We describe a novel mutation in three patients with the myopathic form of very-long-chain acyl-CoA dehydrogenase deficiency. Three siblings born to second-degree cousins of Jewish-Iraqi origin exhibited rhabdomyolysis and myoglobinuria as the presenting signs of the mild late-onset form of very-long-chain acyl-CoA dehydrogenase deficiency. We screened the patients for mutations in the very-long-chain acyl-CoA dehydrogenase gene by amplification of all 20 exons and analysis by single-stranded conformation variance on gel electrophoresis. The patients were homozygous for a novel mutation G637A that alters alanine 173 to threonine. We hypothesize that this missense substitution caused a mild change of enzyme function correlating with the mild clinical features and, thus, favoring a genotype-phenotype correlation.
authors.affiliation: Neurogenetic Clinic; Schneider Children's Medical Center of Israel; Petah Tikva and Sackler School of Medicine; Tel Aviv University, Tel Aviv, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.forename: Arnold W
authors.initials: AW
authors.lastname: Strauss
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000293:Adolescent; D050788:Alanine Dehydrogenase; D000429:Alcohol Oxidoreductases / Q000235:genetics; D000594:Amino Acid Oxidoreductases / Q000235:genetics; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics; D004587:Electrophoresis, Agar Gel / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques
chemical_list: D000429:Alcohol Oxidoreductases; C023159:L-threonine 3-dehydrogenase; D044944:Acyl-CoA Dehydrogenases; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D000594:Amino Acid Oxidoreductases; D050788:Alanine Dehydrogenase