PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream. The current treatment for this disorder involves dietary modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine.
Dietary noncompliance can result in a decline in mental and behavioral performance.
Women with PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Research on PKU continues to broaden the knowledge base from which informed decisions regarding screening and treatment can be made. The first day and a half of the Conference will consist of expert presentations and public discussion of PKU epidemiology and genetics, screening strategies, and treatment regimens. The panel's statement will be presented in public on the third day of the conference.