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Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.

Hahn, SH; Lee, EH; Jung, JW; Hong, CH; Yoon, HR; Rinaldo, P; Sims, H; Gibson, B; Strauss, AW
The Journal of pediatrics, 135(2Pt1):250-253, 1999
Journal Title
The Journal of pediatrics
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.
MeSH terms
Acyl-CoA Dehydrogenase, Long-ChainArginine/geneticsCardiomyopathies/enzymologyCarnitine/analogs & derivativesCarnitine/bloodCodon, Terminator/geneticsFatal OutcomeFatty Acid Desaturases/deficiency*Fatty Acid Desaturases/geneticsGenetic HeterogeneityHumansInfantKoreaLipid Metabolism, Inborn Errors/bloodLipid Metabolism, Inborn Errors/genetics*MaleMutation*
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
한, 시훈정, 조원홍, 창호
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