Which enzyme's deficiency is associated with the development of Phenylketonuria, a genetic disorder characterized by an inability to break down the amino acid phenylalanine?
Explanation
Phenylalanine hydroxylase is the enzyme responsible for converting phenylalanine to tyrosine, and its deficiency leads to Phenylketonuria, a genetic disorder that can cause intellectual disability if left untreated.
Mnemonic
'Phe'nylalanine Hydroxylase, 'PKU' = 'Phe'nyl 'K'etone 'U'rea
Source
Nelson's Textbook of Pediatrics











