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Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency

Title
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency
Authors
Kim S.H.Park H.-D.Sohn Y.B.Park S.W.Cho S.Y.Ji S.Kim S.J.Choi E.W.Kim C.H.Ko A.-R.Yeau S.Paik K.-H.Jin D.-K.
Ewha Authors
여성희
SCOPUS Author ID
여성희scopus
Issue Date
2011
Journal Title
Annals of Clinical and Laboratory Science
ISSN
0091-7370JCR Link
Citation
vol. 41, no. 1, pp. 84 - 88
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here, the first Korean neonate diagnosed with SCADD by biochemical and genetic findings is reported. The patient has remained asymptomatic by avoiding hypoglycemia. An increased concentration of butylcarnitine was detected on newborn screening. Subsequent urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. To confirm the presence of the genetic abnormality, all the coding exons of the ACADS gene and flanking introns were amplified by the polymerase chain reaction (PCR). Sequence analysis of the ACADS gene revealed novel homozygous missence mutations, c. 1031A>G (p.E344G) in exon 9. In summary, the first Korean patient with confirmed SCADD by genetic analysis is reported with novel mutation. © 2011 by the Association of Clinical Scientists, Inc.
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사범대학 > 과학교육과 > Journal papers
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