Phenylketonuria (PKU) is a genetic condition affecting 1 in 10,000 individuals in North America. PKU is an autosomal recessive disorder, meaning that for a child to inherit PKU, both parents must be a carrier of the PKU gene. When both the mother and father are carriers, the chance of each child’s inheriting PKU is 1 in 4. PKU is caused by dysfunction of the enzyme phenylalanine hydroxylase (PAH). The PAH enzyme is essential for the metabolism of phenylalanine (Phe), an amino acid found in all foods containing protein. Without the enzyme, levels of Phe accumulate in the blood and body tissues, which can be harmful to the central nervous system. Classification of PKU is based on the degree to which Phe is elevated in ...

  • Loading...
locked icon

Sign in to access this content

Get a 30 day FREE TRIAL

  • Watch videos from a variety of sources bringing classroom topics to life
  • Read modern, diverse business cases
  • Explore hundreds of books and reference titles