Abstract
Two Korean siblings with partial hypoxanthineguanine phosphoribosyltransferase (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 blood cell HPRT activity of both siblings was one-tenth of normal. Analysis of genomic DNA revealed a point mutation from A (adenine) to G (guanine) at nucleotide position 215 on exon 3; this is a new mutation. The younger brother had the same mutation and the mother was heterozygous for this mutation.
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Choi, Y., Koo, J.W., Ha, I.S. et al. Partial hypoxanthine-guanine phosphoribosyl transferease deficiency in two Korean siblings—a new mutation. Pediatr Nephrol 7, 739–740 (1993). https://doi.org/10.1007/BF01213340
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DOI: https://doi.org/10.1007/BF01213340