J Korean Med Sci.  2010 Jun;25(6):957-960. 10.3346/jkms.2010.25.6.957.

Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

• Park JD
• Lim B
• Kim KJ
• Hwang YS
• Kim SK
• Kang SH
• Cho SI
• Park SS
• Lee JS
• Chae JH

• KMID: 2150880
• DOI: http://doi.org/10.3346/jkms.2010.25.6.957

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.

Keyword

Glutaric Aciduria Type I; Glutaryl-CoA Dehydrogenase; Mutation; Korea

Figure

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  Fig. 1 Magnetic resonance imaging (MRI) findings and GCDH gene mutational analysis of two patients. (A) MRI of the patient 1. A T2-weighted axial image showing a large amount of subdural fluid collection with frontotemporal atrophy and high signal intensity in both basal ganglia. (B) A novel mutation from the patient 1. c.658G>T, heterozygote, p.Asp220Tyr. (C) MRI of the patient 2. Asymmetric subdural fluid collection suggesting hemorrhage with mild mass effect on a T2-weighted axial image. (D) A novel mutation from the patient 2. c.478C>T, heterozygote, p.Q160X.

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