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 caused by a mutation in the gene coding for phenylalanine hydroxylase. This study will use an investigational drug called Phenoptin. Phenoptin has shown to reduce blood Phe levels in subjects with PKU. This study will enroll invdividuals who suffer from PKU and who have an elevated blood Phe level. This study will help to evaluate the safety and response rate of Phenoptin while it is taken over an 8-day period.
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