Glutaric aciduria type 1 in Korea: report of two novel mutations.
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.
Park
June Dong
JD
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Lim
ByungChan
B
Kim
Ki Joong
KJ
Hwang
Yong Seung
YS
Kim
Seung Ki
SK
Kang
Seong-Ho
SH
Cho
Sung Im
SI
Park
Sung Sup
SS
Lee
Joon Soo
JS
Chae
Jong Hee
JH
D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D019943:Amino Acid Substitution; D002675:Child, Preschool; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
D050770:Glutaryl-CoA Dehydrogenase