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

Clin Chem Lab Med. 2007;45(11):1495-7. doi: 10.1515/CCLM.2007.317.

Abstract

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 C4-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.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenases / genetics*
  • Base Sequence
  • Codon
  • DNA / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Mutation*
  • Neonatal Screening / methods*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Tandem Mass Spectrometry / methods*

Substances

  • Codon
  • DNA
  • Acyl-CoA Dehydrogenases
  • Oxidoreductases Acting on CH-CH Group Donors
  • ACAD8 protein, human
  • 2-methylacyl-CoA dehydrogenase