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Genetics

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Question:

Explain what is PKU

Author: Sena Aysel



Answer:

Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into tyrosine, which your body needs to create neurotransmitters such as epinephrine, norepinephrine, and dopamine. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine. This causes a buildup of phenylalanine in your body.


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