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Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

Cited 6 time in Web of Science Cited 5 time in Scopus
Authors
Park, June Dong; Lim, ByungChan; Hwang, Yong Seung; Kim, Ki Joong; Kang, Seong-Ho; Park, Sung Sup; Chae, Jong Hee; Lee, Joon Soo; Cho, Sung Im; Kim, Seung Ki
Issue Date
2010-06
Publisher
KOREAN ACAD MEDICAL SCIENCES
Citation
JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 957-960
Keywords
Glutaric Aciduria Type IGlutaryl-CoA DehydrogenaseMutationKorea
Abstract
Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor proportion. We recently diagnosed two cases of GA I confirmed with mutational analysis. Here, we present their rather atypical clinical presentations with genetic characteristics for the first time in Korea. Profound developmental delay from birth, association of hearing loss, and neurological improvement after surgical intervention, were considered to be different clinical features from most reported cases. One patient was a compound heterozygote for p.Ser139Leu and p.Asp220Tyr, and the other for p.Ser139Leu and Glu160X. The mutations of the two alleles (p.Asp220Tyr and p.Glu160X) were novel and reports of p.Ser139Leu were rare both in Western and other Asian populations. These might suggest different genetic spectrum of Korean GA I patients.
ISSN
1011-8934
Language
English
URI
https://hdl.handle.net/10371/76305
DOI
https://doi.org/10.3346/jkms.2010.25.6.957
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College of Medicine/School of Medicine (의과대학/대학원)Laboratory Medicine (검사의학전공)Journal Papers (저널논문_검사의학전공)
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