This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Phenylketonuria (PKU) is a rare autosomal recessive genetic metabolic disease casued by a mutation in the gene coding for phenylalanine hydroxylase. Approximately 1 in every 10,000 infants worldwide is born with PKU. If untreated, the disorder results in mental retardation, microcephaly, delayed speech, seizures, eczema anad behavioral abnormalities. There is no approved medical therapy for the treatment of PKU. Current managmenet inculdes the use of low-Phe medical diet formulas and dietary restriction of Phe-containing foods. Adherence to this restrictive diet involves significant practical issues, including complicance in older children, adolescents and adults and nutritional deficiencies associatd with limitation of natural protein sources. This study will use an investigational drug called phenoptin. Phenoptin has been shown to reduce blood Phe levels in subjects with PKU. This study will enroll individuals who completed the PKU-001 study, who were compliant with their medication usage and showed a 30% or greater difference in their Phe levels. The initial study is being conducted in the GCRC under protocol number 1026. This study will assess the safety and efficacy of phenoptin when compared to palcebo over a six week treatment period.
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