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Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency

Authors
 Yoo-Mi Kim  ;  Chong-Kun Cheon  ;  Kyung-Hee Park  ;  SungWon Park  ;  Gu-Hwan Kim  ;  Han-Wook Yoo  ;  Kyung-A Lee  ;  Jung Min Ko 
Citation
 Annals of Clinical and Laboratory Science, Vol.46(4) : 360-366, 2016 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2016
MeSH
Acyl-CoA Dehydrogenase/deficiency* ; Acyl-CoA Dehydrogenase/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Child, Preschool ; Disease Progression ; Female ; Follow-Up Studies ; Humans ; Infant ; Lipid Metabolism, Inborn Errors/enzymology* ; Lipid Metabolism, Inborn Errors/genetics* ; Male ; Malonates/metabolism ; Mutation/genetics* ; Republic of Korea ; Succinates/metabolism ; Treatment Outcome
Keywords
Fatty acid beta-oxidation ; Short-chain acyl-CoA dehydrogenase deficiency ; ACADS ; Newborn screening test
Abstract
Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in mitochondrial short-chain β-oxidation, and its deficiency is caused by mutations in the ACADS We sought to investigate the spectrum ACADS mutations and associated clinical manifestations in Korean patients with SCAD deficiency. The study included ten patients with SCAD deficiency from 8 unrelated families as diagnosed by biochemical profile and mutation analyses. Clinical features, biochemical data, growth, and neurodevelopmental state were reviewed retrospectively. Eight patients were found during newborn screening, and two were diagnosed by family screening. During follow-up ranging from 2 months to 4.5 years, no hypoglycemic event was noted, and the development and growth of the patients were normal, except in two siblings. One exhibited hypotonia and gross motor delay, while one girl showed cyclic vomiting until the age of two years. We identified seven different mutations of ACADS Of these, p.E344G was the most frequent mutation with an allele frequency of 50%, followed by p.P55L with 18.8%. p.G108D and four novel mutations were identified: p.L93I, p.E228K, p.P377L, and p.R386H. Korean patients with SCAD deficiency showed heterogenous clinical features and ACADS genotype. Our data contributes to a better understanding of the distinct molecular genetic characteristics and clinical manifestations of SCAD deficiency.
Full Text
http://www.annclinlabsci.org/content/46/4/360.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/22282913/152174
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