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) defic iency by organic acid, fatty acid, acylcarnitine, and molecular genetic ana lysis. The patient was a compound heterozygote for mutations in the VLCAD g ene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130 partial derivative el); this allele is of paternal origi n. The patient's maternally derived allele is a novel mutation, C1843T in e xon 20, which creates a premature termination codon (R615stop). Although mo lecular genetic characterization of VLCAD deficiency is limited to a few pa tients, heterogeneity of mutations is already apparent. However, the E130 p artial derivative el is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our pat ient appear to be responsible for his severe and fatal clinical manifestati ons.