Understanding Phenylketonuria (PKU): Causes, Symptoms, and Effects of Enzyme Dysfunction.

A person who suffers from phenylketonuria (PKU) is unable to process phenylalanine because of a dysfunctional ________, a protein that is encoded by their DNA.

enzyme

A person who suffers from phenylketonuria (PKU) is unable to process phenylalanine because of a dysfunctional enzyme called phenylalanine hydroxylase (PAH), which is encoded by their DNA. PAH is responsible for converting the amino acid phenylalanine into another amino acid called tyrosine. In people with PKU, the PAH enzyme is either completely absent or not functioning properly, which leads to a build-up of phenylalanine and a deficiency of tyrosine in the body. This can cause a range of symptoms, including intellectual disability, learning difficulties, behavioral problems, seizures, skin rashes, and a musty odor in the breath, sweat, and urine.

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