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Pediatrics Inborn Errors of Metabolism 740d4872

Hyperphenylalaninemia is due to defect in the enzyme:

A
Phenylalanine hydroxylase:
B
Tyrosinase
C
Homogentisic acid oxidase
D
Ornithine transcarbamylase
High-Yield Explanation
a. Phenylalanine hydroxylase(Ref: Nelson's 20/e p 636-636)Deficiency of the enzyme phenylalanine hydroxylase or of its cofactor tetrahydrobiopterin (BH4) causes accumulation of phenylalanine in body fluids and in the brain.

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