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Phenylketonuria (PKU) | Learn more

What is Phenylketonuria (PKU)??
  • Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called phenylketonuria (PKU), is a rare inherited disease that causes the body to build up the amino acid phenylalanine. PKU is caused by a mutation in the phenylalanine hydroxylase (PAH) gene. This gene helps make an enzyme needed to break down phenylalanine.

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