A 4-year-old child presents with developmental delay, a distinctive 'mousy' odor, and fair skin and hair. These findings are most consistent with a deficiency in which enzyme?

Question

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B) Phenylalanine hydroxylase. The symptoms describe Phenylketonuria (PKU), caused by a deficiency in phenylalanine hydroxylase. This enzyme converts phenylalanine to tyrosine. Accumulation of phenylalanine leads to neurotoxicity and the characteristic 'mousy' odor.

A 4-year-old child presents with developmental delay, a distinctive 'mousy' odor, and fair skin and hair. These findings are most consistent with a deficiency in which enzyme?

✓ Correct Answer: Option B

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