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Pediatrics Disorders of Amino acid Metabolism 97685252

Hyperuricemia is caused in newborn due to defect in:

A
Adenosine deaminase
B
Ornithine transcarbamylase
C
Xanthine oxidase
D
Hypoxanthine guanine ribosyltransferase
High-Yield Explanation
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

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