1.Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations.
June Dong PARK ; ByungChan LIM ; Ki Joong KIM ; Yong Seung HWANG ; Seung Ki KIM ; Seong Ho KANG ; Sung Im CHO ; Sung Sup PARK ; Joon Soo LEE ; Jong Hee CHAE
Journal of Korean Medical Science 2010;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.
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