Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
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.
Hahn
S H
SH
Department of Pediatrics, Ajou University School of Mediicne, Suwon, Korea.
Lee
E H
EH
Jung
J W
JW
Hong
C H
CH
Yoon
H R
HR
Rinaldo
P
P
Sims
H
H
Gibson
B
B
Strauss
A W
AW
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
D018388:Codon, Terminator; C116917:acylcarnitine; D001120:Arginine; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine