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Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Park, June Dong | - |
dc.contributor.author | Lim, ByungChan | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Kang, Seong-Ho | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Chae, Jong Hee | - |
dc.contributor.author | Lee, Joon Soo | - |
dc.contributor.author | Cho, Sung Im | - |
dc.contributor.author | Kim, Seung Ki | - |
dc.date.accessioned | 2012-05-23T01:59:08Z | - |
dc.date.available | 2012-05-23T01:59:08Z | - |
dc.date.issued | 2010-06 | - |
dc.identifier.citation | JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 957-960 | ko_KR |
dc.identifier.issn | 1011-8934 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76305 | - |
dc.description.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. | ko_KR |
dc.description.sponsorship | This study was supported by a grant of the Korea
Healthcare Technology R&D project, Ministry for Health, Welfare and Family Affairs, Republic of Korea (A080588). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | KOREAN ACAD MEDICAL SCIENCES | ko_KR |
dc.subject | Glutaric Aciduria Type I | ko_KR |
dc.subject | Glutaryl-CoA Dehydrogenase | ko_KR |
dc.subject | Mutation | ko_KR |
dc.subject | Korea | ko_KR |
dc.title | Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 박준동 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 강성호 | - |
dc.contributor.AlternativeAuthor | 김승기 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.contributor.AlternativeAuthor | 임병찬 | - |
dc.contributor.AlternativeAuthor | 조성임 | - |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.contributor.AlternativeAuthor | 이준수 | - |
dc.contributor.AlternativeAuthor | 박성섭 | - |
dc.identifier.doi | 10.3346/jkms.2010.25.6.957 | - |
dc.citation.journaltitle | JOURNAL OF KOREAN MEDICAL SCIENCE | - |
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dc.description.tc | 1 | - |
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