Hyperuricemia is caused in newborn due to defect in:: (A) Adenosine deaminase, (B) Ornithine transcarbamylase, (C) Xanthine oxidase, (D) Hypoxanthine guanine ribosyltransferase
Answer is D. Plasma uric acid is elevated in Lesch Nyhan disease (Hypoxanthine guanine ribosyltransferase deficiency) Xanthine oxidase deficiency- plasma uric acid | Adenosine deaminase deficiency leads to hypouricemia. Ornithine transcarbamylase deficiency- | ammonia