title: Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
abstract: A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme A dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic analysis. The patient was a compound heterozygote for mutations in the VLCAD gene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130del ); this allele is of paternal origin. The patient's maternally derived allele is a novel mutation, C1843T in exon 20, which creates a premature termination codon (R615stop ). Although molecular genetic characterization of VLCAD deficiency is limited to a few patients, heterogeneity of mutations is already apparent. However, the E130del is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our patient appear to be responsible for his severe and fatal clinical manifestations.
authors.affiliation: Department of Pediatrics, Ajou University School of Mediicne, Suwon, Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Hahn
authors.forename: E H
authors.initials: EH
authors.lastname: Lee
authors.forename: J W
authors.initials: JW
authors.lastname: Jung
authors.forename: C H
authors.initials: CH
authors.lastname: Hong
authors.forename: H R
authors.initials: HR
authors.lastname: Yoon
authors.forename: P
authors.initials: P
authors.lastname: Rinaldo
authors.forename: H
authors.initials: H
authors.lastname: Sims
authors.forename: B
authors.initials: B
authors.lastname: Gibson
authors.forename: A W
authors.initials: AW
authors.lastname: Strauss
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D001120:Arginine / Q000235:genetics; D009202:Cardiomyopathies / Q000201:enzymology; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D018388:Codon, Terminator / Q000235:genetics; D017809:Fatal Outcome; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D007723:Korea; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D018388:Codon, Terminator; C116917:acylcarnitine; D001120:Arginine; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine