|
KMID : 0918520150150010035
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 1 p.35 ~ p.39
|
|
|
Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate
|
|
Kyung Ye-Chan
Huh Rimm
Kwun Young-Hee
Lee Ji-Eun
Cho Sung-Yoon
Jin Dong-Kyu
Lee Jeong-Ho
Lee Dong-Hwan
|
|
|
Abstract
|
|
|
|
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T >A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.
|
|
|
KEYWORD
|
|
|
Medium chain acyl-CoA dehydrogenase (MCAD), ACADM gene, Tandem mass spectrometry
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|