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National PKU Alliance
P.O. Box 501
Tomahawk, WI 54487-0501 USA
The National PKU Alliance is a voluntary, non-profit organization whose mission is to improve the lives of individuals and families associated with PKU through research, support, education and advocacy, while ultimately seeking a cure. The purposes of the Alliance are: To advance research relating to the treatment and/or cure of PKU by raising and distributing funds, establishing a Research Development and Review Committee, assisting in the creation of databases that will be shared with the international community, and providing publicity for products that will benefit individuals with PKU; To support local PKU organizations by encouraging and assisting in the development of new PKU organizations, working with local PKU organizations on fundraising and educational campaigns, acting as a liaison among local PKU organizations in order to encourage networking, and identifying treatment issues and working on possible resolutions; To educate others about PKU and the issues faced by individuals and families by communicating best practices for treatment and other information to health care providers, creating communication pieces and other material for use by local PKU organizations and others, encouraging children and young adults to stay on diet, sponsoring national and international conferences, and providing current information to PKU organizations about recent developments in treatments and products; and to advocate for all individuals with PKU by working toward the enactment of PKU friendly legislation, seeking coverage by insurance companies for treatment, and aligning with support groups for related metabolic disorders to promote common goals. Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine. Amino acids, the chemical building blocks of proteins, are essential for proper growth and development. With normal enzymatic activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue.