Phenyketonuria

Question

Phenyketonuria

20 Dec 2024

Answer :

Word Count : 223

Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). This enzyme catalyzes the hydroxylation of phenylalanine to tyrosine, which is a crucial step in the catabolism of phenylalanine. The deficiency in PAH activity leads to the accumulation of phenylalanine and its toxic metabolites in the blood and ______ ___ ___ _______ ________.
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