Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.

摘要

Isobutyryl-CoA dehydrogenase (IBD) is an enzyme involved in the catabolism of the branched-chain amino acid valine. IBD deficiency is a very rare metabolic disorder, whereby only a few cases have been reported thus far. Recently, we observed a Korean newborn boy with elevated concentration of C(4)-acylcarnitine detected by tandem mass spectrometry neonatal screening. Subsequent sequencing analysis of ACAD8 gene revealed that he was compound heterozygous for a novel mutation involving the first codon (c.3G>T; Met1Ile) and a previously reported mutation (c.1000C>T; Arg334Cys). To the best of our knowledge, this is the first confirmed case of IBD deficiency based on biochemical and genetic studies not only in Korea but also in Asia. Clin Chem Lab Med 2007;45:1495-7.