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Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation

Authors
 Jung Min Ko  ;  Jieun Seo  ;  Murim Choi  ;  Junghan Song  ;  Kyung-A Lee  ;  Choong Ho Shin 
Citation
 Annals of Clinical and Laboratory Science, Vol.46(1) : 97-101, 2016 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2016
MeSH
Acyl-CoA Dehydrogenase, Long-Chain/chemistry ; Acyl-CoA Dehydrogenase, Long-Chain/deficiency* ; Acyl-CoA Dehydrogenase, Long-Chain/genetics ; Amino Acid Sequence ; Asian Continental Ancestry Group/genetics* ; Base Sequence ; Child ; Female ; Genes, Recessive ; Humans ; Infant ; Lipid Metabolism, Inborn Errors/genetics* ; Male ; Mitochondrial Diseases/genetics* ; Molecular Sequence Data ; Muscular Diseases/genetics* ; Mutation/genetics* ; Pedigree ; Republic of Korea
Keywords
ACADVL ; Fatty acid oxidation ; Hypoglycemia ; Riboflavin ; Very-long-chain acyl-CoA dehydrogenase
Abstract
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD; OMIM#201475) is a rare metabolic disorder of mitochondrial fatty acid oxidation. VLCADD includes three clinical forms that are grouped based on disease severity. Here, we present two unrelated patients suspected of having VLCADD based on a newborn screening test. One patient was diagnosed in the neonatal period and, to date, has not shown any symptoms or signs associated with VLCADD; in contrast, diagnosis was delayed in the other patient after events of hypoketotic hypoglycemia and steatohepatitis. Repeated biochemical analyses and a liver biopsy implied VLCADD, and direct sequencing analysis led to the discovery of three novel mutations, including an identical missense variant (p.Ser207Pro) on ACADVL. Our patients were the first cases of the milder form of VLCADD, and the identical mutation detected might represent a founder mutation in the Korean population and be associated with the milder phenotype of VLCADD.
Full Text
http://www.annclinlabsci.org/content/46/1/97.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152037
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