PKU (Phenylketonuria)

Ramon Macias

You should see a Doctor if you have the following symptoms:

  • Skin rashes
  • Small head size
  • Slow growth
  • Seizures or shaking
  • Social problems or behavioral
  • Blue eyes and fair skin
  • Body odor

Babies in Danger

This disease can only be inherited by the parents of the baby who has it. In order for a baby to have PKU, BOTH parents must have a gene to change for PKU. If only one parent has then the baby has a gene to change for PKU, but DOES NOT have PKU. About 1 in 10,000 to 15,000 does a baby inherit PKU in the U.S. per year.


  • Cause by mutations In the PAH (Phenylalanine hydroxylase) gene on the long arm of chromosome 12
  • Around 500 mutations In the PAH gene have been identified in people with PKU (most of these mutations change single amino acid on PAH)
  • PAH is responsible For the conversion of phenylalanine to another amino acid called Tyrosine.


  • PKU can be easily detected in a blood test
  • The U.S. requires A PKU screening test for newborn screening panel


  • Treatments include strict diet With limited protein
  • People who have PKU need to avoid food with high-protein Including:
  1. Milk and cheese
  2. Eggs and nuts
  3. Beans(including soybeans)
  4. Chicken, beef, and pork
  5. Fish and peas
  • The U.S. Food and Drug Administration (FDA) has approved the drug Sapropterin Dihydrochloride (Kuvan) for the treatment of PKU