What is PKU?

PKU is an abbreviation for Phenylketonuria. Approximately 1 in 10,000 children are born each year with this genetic disorder, which prevents them from metabolizing a part of the protein in food called Phenylalanine (phe). Without treatment, phe accumulates in the blood and can seriously impair brain development and function. Children with untreated PKU will become mentally retarded before their first birthday. Today, all babies born in US hospitals are tested for PKU with a simple, heel stick blood test, developed in the early 1960s by Dr. Robert Guthrie. Infants diagnosed with PKU are immediately placed on a low-protein diet and a metabolic formula.

PKU is Treatable

Children diagnosed with PKU who begin treatment immediately can expect to live a totally normal life. Treatment is dietary, and includes adhering to a strict low-protein diet and drinking a phe-free, prescription formula that supplies the majority of the protein needed for good health and growth. People with PKU can eat fruits, most vegetables, and an array of low-protein foods. Foods that should be avoided include meat, fish, poultry, dairy, eggs, and bakery products because they all contain high levels of phe. People with PKU have their blood phe levels checked frequently to ensure that they are not exceeding unhealthy limits. Experts agree that remaining on the diet for life is extremely important to maintain good brain development and body health.

Who Gets PKU?

PKU is an inherited, recessive disorder, which means that both parents of a PKU child are carriers of the gene for PKU. There is a 25% chance that a child born of carrier parents will have PKU. There is a 50% chance that a child born to carrier parents will be a carrier for the gene, but will not have PKU, and there is a 25% chance that a child born to carrier parents will neither carry the gene nor have PKU.

Maternal PKU

Research into understanding more about PKU is an ongoing process. Great strides have been made in treating PKU over the past 30+ years. Forty years ago, most people with PKU were institutionalized. Today, they are living normal, healthy lives, and many go on to have families of their own. This has revealed another aspect of PKU: Maternal PKU. Maternal PKU causes severe birth defects in children born to mothers with PKU who do not maintain healthy blood phe levels. Babies with the syndrome may suffer growth retardation, microcephaly, congenital heart disease, and other serious problems. This is why it is very important for PKU women of childbearing age to follow the diet closely. Intensive research and education programs are now focusing on this emerging issue.

Family Education and Support

PKU families need to understand the importance of sticking to the diet, to cope with issues that the diet raises, and to never feel alone when trying to meet this challenge. We can help with these issues in a variety of ways:

• The PKU Press (published three times a year) and our website (www.pkuil.org) are forums for the exchange of new information, ideas, recipes, and encouragement.
• Our directory lists member contact information.
• Our annual "Family Camp", new parent coffees, "Discovery Days", social events, educational forums, and cooking classes aim to bring families together for friendship, learning, and support.
• Our annual meeting has captured national attention for the quality of its presentations on PKU research and treatment from prominent researchers in the field.
• Our legislative committee works with lawmakers to protect the interests of PKU families.
• Our annual scholarship is awarded to two students, with PKU, that plan on or currently attends a college, university or vocational school.

PKU Research Funding

The PKU Organization of Illinois is committed to supporting research aimed at better understanding PKU and eventually finding a cure. Research initiatives we’ve supported include the Maternal PKU Project, gene therapy, and ongoing clinical trials for a "PKU drug" in development called tetrahydrobiopterin (BH4). We are always on the lookout for promising research that needs funding.

We’re Here to Help

Founded in 1969, the PKU Organization of Illinois (PKUIL) is a not-for-profit membership group dedicated to helping PKU families live happy, healthy lives. Membership is open to anyone with an interest in PKU.

We focus on member education and support, and PKU research funding.

About PKUIL

The PKU Organization of Illinois is a not-for-profit organization qualified for tax-deductible contributions. We receive financial support from our members, the community, and businesses and corporations.

To learn more about PKU and how you can help, write to:

PKU Organization of Illinois P. O. Box 102 Palatine, IL 60078-0102 (630) 415-2219 www.pkuil.org info@pkuil.org

Affiliated with:

Children’s Memorial Hospital

The University of Illinois Hospital
Rush University Medical Center
A not-for-profit organization Federal ID#36-3320115