Phenylketonuria (PKU) is a rare inherited disorder that causes a buildup of which molecule?

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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 molecule?

Explanation:
Phenylketonuria causes a buildup of phenylalanine because the body cannot convert it to tyrosine due to a deficiency of phenylalanine hydroxylase (the enzyme that normally carries out this step). When this conversion is blocked, phenylalanine accumulates in the blood and tissues, which can be toxic to the brain if not managed. Since phenylalanine isn’t effectively turned into tyrosine, tyrosine levels can become relatively low, contributing to the clinical features and guiding dietary management. The block is specific to this one pathway, so other amino acids like leucine or methionine don’t accumulate due to this defect.

Phenylketonuria causes a buildup of phenylalanine because the body cannot convert it to tyrosine due to a deficiency of phenylalanine hydroxylase (the enzyme that normally carries out this step). When this conversion is blocked, phenylalanine accumulates in the blood and tissues, which can be toxic to the brain if not managed. Since phenylalanine isn’t effectively turned into tyrosine, tyrosine levels can become relatively low, contributing to the clinical features and guiding dietary management. The block is specific to this one pathway, so other amino acids like leucine or methionine don’t accumulate due to this defect.

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