Question:
Which of the following enzymes is deficient in a patient with Phenylketonuria if phenylalanine hydroxylase level is normal?
Which of the following enzymes is deficient in a patient with Phenylketonuria if phenylalanine hydroxylase level is normal?
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In cases of PKU with normal phenylalanine hydroxylase levels, dihydrobiopterin reductase deficiency can cause a similar metabolic disturbance.
Updated On: Mar 24, 2025
- Dihydrobiopterin reductase
- Phenylalanine hydroxylase
- Tyrosine aminotransferase
- Dihydropteridine reductase
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The Correct Option is A
Solution and Explanation
Phenylketonuria (PKU) is typically due to a deficiency in phenylalanine hydroxylase. However, if phenylalanine hydroxylase is normal, the condition could be caused by a deficiency in dihydrobiopterin reductase, which is responsible for recycling tetrahydrobiopterin, a cofactor necessary for phenylalanine hydroxylase activity.
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