Phenylketonuria, PKU, is a very rare genetic disorder in which a baby lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to convert phenylalanine (PHE), an amino acid, into another amino acid called tyrosine after protein is eaten. If PKU is not treated soon after birth, PHE builds up in the bloodstream and brain tissue, causing mental retardation and central nervous system problems. If PKU is diagnosed and treated soon after birth, all or most of these problems can usually be prevented.

Each year there are approximately 250 children in the United States diagnosed with PKU. The main treatment for PKU is a lifelong, extremely low-protein diet. This helps prevent PHE from building up in the body. But because PHE is needed for normal growth and development, it cannot be completely eliminated from a patient's diet. Therefore, those diagnosed with PKU must maintain a specific diet which includes low-protein food alternatives and daily drink a special PHE-free formula that provides all other parts of protein.

It is our desire for this Foundation to serve as a central, national fundraising organization with the express purpose of helping those effected with Phenylketonuria (PKU). This rare genetic disorder does not yet have a campaign platform from which to raise funds and collect donations on a national level, and that is an important gap The PKU Foundation would like to fulfill.

Establish Awareness

In an addition to raising financial support for the cure and treatment of PKU, the Foundation would also like to raise general community and social awareness of the disease. As affected children are often ostracized in social and school settings, it is important that friends, teachers, and care takers become educated to the effects and preventative measures available. Through sponsorships, school presentations and public service conferences we hope to better educate the general community about PKU.

Enrich Lives

The PKU Foundation plans to assist PKU-afflicted families with literature, training and resources that will enable them to live an enriched life. The PKU Foundation will look to create camps, weekend retreats and other social opportunities for families to network and fellowship within the PKU community. We would also like to host a national conference annually providing families with educational, social and networking opportunities within the PKU community.

Enable Research

Medical research institutions have expressed needs for additional funding in order to advance PKU research. General funding is often directed toward treating more profitable diseases, as the majority of these institutions are for profit. The PKU Foundation would coordinate fundraising efforts directed at providing these institutions with additional funding, specifically for the advancement of PKU treatment. Selections would be made through references and referrals within the research community, as well as campus visits, funding requests, etc.