S-Space College of Medicine/School of Medicine (의과대학/대학원) Laboratory Medicine (검사의학전공) Journal Papers (저널논문_검사의학전공)
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
- 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
- KOREAN ACAD MEDICAL SCIENCES
- JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 957-960
- 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.