Mutation analysis of Korean patients with citrullinemia

Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed o n three Korean patients with citrullinemia. AII of the three patients had t he splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly 324Ser mutation and the other patient had a 67-bp insertion mutation in exo n 15, The IVS6-2A>G mutation was reported to be found frequently in Japanes e patients with citrullinemia, but Caucasian patients showed the extreme mu tational heterogeneity. Although a limited number of Korean patients were s tudied, the IVS6-2A>G mutation appears to be one of the most frequent mutan t alleles in Korean patients with citrullinemia, The Gly324Ser mutation ide ntified in two patients also suggests the possible high frequency of this m utation in Korean patients as well.