PARTIAL HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY IN2 KOREAN SIBLINGS - A NEW MUTATION

Two Korean siblings with partial hypoxanthine-guanine phosphoribosyltr ansferase (HPRT) deficiency are reported. The index patient was a boy aged 9 years 10 months who developed acute renal failure with a serum uric acid level of 25.9 mg/dl, after vomiting. The younger brother was asymptomatic but had elevated serum uric acid (9.4 mg/dl). The red bl ood cell HPRT activity of both siblings was one-tenth of normal. Analy sis of genomic DNA revealed a point mutation from A (adenine) to G (gu anine) at nucleotide position 215 on exon 3; this is a new mutation. T he younger brother had the same mutation and the mother was heterozygo us for this mutation.