What is PKU?

PKU is a genetic disorder that causes a build up of the amino acid Phenylalanine in the body. It is caused by a defect in the gene (PAH) that helps create the enzyme needed to break down phenylalanine. This autosomal gene can be found on chromosome 12.

Who has PKU

  • PKU is not preventable and also is not curable. It can be found in all ethnic groups, and in both girls and boys. However it is extremely rare, less than 20,000 people have it. The probability of inheritance is a 25% chance of having PKU
  • Clinical Trial Steps

  • Phase 1: Usually designed to evaluate safety, determine a safe dosage range, and identify side effects on a small group of patients.
  • Phase 2: If Phase I is successful, the trial is then repeated with a larger group to further evaluate its effect and safety.
  • Phase 3: Trials are conducted on an ever larger group and are compared with the best current treatment while gathering more information on effect and safety.
  • Phase 4: These studies monitor long-term side effects after the treatment has been marketed.
  • Shelby Hurst & Chase Royer