PKU, or phenylketonuria, is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create something called phenylalanine hydroxylase. This is the enzyme responsible for breaking down the amino acid phenylalanine (Phe) that is found in a variety of common foods. Phenylalanine hydroxylase converts the amino acid Phe to other important compounds in the body.
If PKU is not treated, Phe can build up to harmful levels in the body since it is not being broken down naturally. This condition is known as “PAH Deficiency.” Because nerve cells in the brain are particularly sensitive to Phe levels, excessive amounts can cause serious health problems. Individuals with PAH deficiency must eat foods with minimal intact protein, or Phe, in order to achieve normal blood Phe levels. Restrictive, carefully monitored nutrition therapy remains the primary treatment for PAH deficiency as well as supplements containing tyrosine, an amino acid which is important for maintaining certain functions of the brain. Currently, a carefully maintained Phe-restricted diet can help lower blood Phe concentrations. However, it does not address the underlying cause of the disease.
Refer a Friend
Do you know someone between the ages of 18-55 who has PKU? They may be eligible to participate in the pheEDIT study. Consider sharing information with them about how they can learn more.
