Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
J Korean Med Sci. 2010 Jun;25(6):957-60. doi: 10.3346/jkms.2010.25.6.957. Epub 2010 May 24.
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.
I 型戊二酸血症（GA I）是一种常染色体隐性遗传疾病，由戊二酰辅酶 A 脱氢酶缺乏引起。尽管已经报道了超过 400 名确诊为 GA I 的患者，但亚洲人群的报告只占少数。我们最近通过基因突变分析确诊了两例 GA I 病例。在此，我们首次在韩国报告了具有遗传特征的、较为不典型的临床表现。从出生起就存在严重的发育迟缓、听力损失以及手术干预后的神经改善，这些都是与大多数报道病例不同的临床特征。一位患者是 p.Ser139Leu 和 p.Asp220Tyr 的复合杂合子，另一位是 p.Ser139Leu 和 Glu160X。这两种等位基因（p.Asp220Tyr 和 p.Glu160X）的突变是新的，而 p.Ser139Leu 的突变在西方和其他亚洲人群中都很少见。这可能表明韩国 GA I 患者的遗传谱存在差异。
