Phenylketonuria (PKU) is a rare inherited disorder that causes a buildup of which amino acid in the body?

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Prepare for the Durham College Consolidation Exam. Study with flashcards and multiple choice questions, each question includes hints and explanations. Ace your test!

Multiple Choice

Phenylketonuria (PKU) is a rare inherited disorder that causes a buildup of which amino acid in the body?

Explanation:
Phenylketonuria causes a buildup of phenylalanine because the body can’t convert it to tyrosine due to a defect in the enzyme phenylalanine hydroxylase (or its cofactor). With this step blocked, phenylalanine from dietary protein accumulates in the blood and brain, which can be harmful to the developing nervous system if not managed. Tyrosine, on the other hand, becomes relatively deficient since it can’t be made from phenylalanine, so it doesn’t accumulate. Glutamine and tryptophan aren’t the amino acids that pile up in PKU. The key outcome is that phenylalanine builds up.

Phenylketonuria causes a buildup of phenylalanine because the body can’t convert it to tyrosine due to a defect in the enzyme phenylalanine hydroxylase (or its cofactor). With this step blocked, phenylalanine from dietary protein accumulates in the blood and brain, which can be harmful to the developing nervous system if not managed. Tyrosine, on the other hand, becomes relatively deficient since it can’t be made from phenylalanine, so it doesn’t accumulate. Glutamine and tryptophan aren’t the amino acids that pile up in PKU. The key outcome is that phenylalanine builds up.

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