🏥 USMLE Exam Prep

A newborn screens positive for phenylketonuria (PKU). This condition is primarily caused by a deficiency in which enzyme?

A Tyrosinase
B Phenylalanine hydroxylase
C Homogentisate oxidase
D Alpha-ketoacid dehydrogenase

✓ Correct Answer: Option B

PKU is an autosomal recessive disorder caused by a deficiency in phenylalanine hydroxylase. This enzyme converts phenylalanine to tyrosine. Its deficiency leads to the accumulation of phenylalanine and its toxic byproducts.

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