Phenylketonuria caused by deficiency of
**Core Concept**
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency in the enzyme responsible for converting the amino acid phenylalanine into tyrosine. This disorder leads to the accumulation of phenylalanine in the body, causing severe intellectual disability and other complications if left untreated.
**Why the Correct Answer is Right**
Phenylalanine hydroxylase is the enzyme that catalyzes the conversion of phenylalanine to tyrosine in the liver. This reaction is essential for the metabolism of phenylalanine, and a deficiency in this enzyme leads to the accumulation of phenylalanine in the body, resulting in PKU. The correct answer is supported by the fact that mutations in the PAH gene, which encodes the phenylalanine hydroxylase enzyme, cause PKU.
**Why Each Wrong Option is Incorrect**
**Option A:** Tyrosine transaminase is an enzyme involved in the breakdown of tyrosine, not the metabolism of phenylalanine. A deficiency in tyrosine transaminase leads to tyrosinemia, a different metabolic disorder.
**Option B:** Tyrosine hydroxylase is an enzyme involved in the synthesis of dopamine and other catecholamines from tyrosine, not the metabolism of phenylalanine.
**Option D:** Phenylketonuria hydroxylase is not a recognized enzyme involved in the metabolism of phenylalanine. The correct enzyme is phenylalanine hydroxylase.
**Clinical Pearl / High-Yield Fact**
It's essential to note that PKU is a classic example of a genetic disorder caused by a deficiency in a specific enzyme. Early diagnosis and treatment with a phenylalanine-restricted diet can prevent intellectual disability and other complications in individuals with PKU.
β Correct Answer: C. Phenylalanine hydroxylase