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Question

The disease phenylketonuria is caused by the deficiency of:

A
Phenylalanine hydroxylase
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B
Vitamin A
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C
Lysine
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D
Leucine
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Solution

The correct option is A Phenylalanine hydroxylase
The disease phenylketonuria is caused by the deficiency of phenylalanine hydroxylase amino acid. Phenylketonuria is a genetic disorder and is caused by a mutation in a gene on chromosome 12. The gene codes for a protein called PAH (phenylalanine hydroxylase), an enzyme in the liver. This enzyme breaks down the amino acid phenylalanine into other products, which the body needs. When this gene is mutated, the shape of the PAH enzyme changes and it is unable to properly break down phenylalanine. Phenylalanine builds up in the blood and poisons nerve cells (neurons) in the brain.

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