Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
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.
Yoo
Eun-Hyung
EH
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Cho
Hyun-Jung
HJ
Ki
Chang-Seok
CS
Lee
Soo-Youn
SY
D044944:Acyl-CoA Dehydrogenases / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D053719:Tandem Mass Spectrometry / Q000379:methods*
D003062:Codon; D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C122081:ACAD8 protein, human; C038808:2-methylacyl-CoA dehydrogenase