The first successful prenatal diagnosis on a Korean family with citrullinemia

DNA prenatal diagnosis was successfully performed on a family with citrulli nemia. The father carried the G324S mutation and the mother carried the IVS 6-2A > G mutation in the argininosuccinate synthase gene. They had a previo us child with citrullinemia who died in the week after birth owing to compl icated hyperammonemia. The lost child turned out to be a compound heterozyg ote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PC R and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was fou nd to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. P regnancy was continued and a healthy boy was born. Plasma amino acid analys is performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development.