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Phenylalanine Hydroxylase Locus Knowledgebase
McGill Univeristy Health Center
Montreal Children's Hospital
Monteral, Quebec, H3H 1P3
The objectives of the Phenylalanine Hydroxylase Locus Knowledge base (PAH dB) web site are twofold. First, the site provides affected individuals, family members, health care professionals, and others with understandable information concerning phenylketonuria (PKU), an inborn error of metabolism characterized by progressive severe mental retardation, episodes of uncontrolled electrical disturbances of the brain (seizures), and/or other abnormalities that may be prevented through early restriction of dietary phenylalanine. The site posts the in-depth booklet entitled the "Montreal Children’s Hospital’s Hyperphenylalaninemia Resource Booklet for Families" and offers dynamic linkage to additional sources of information and support. The web site is also dedicated to providing researchers, physicians, and other interested individuals with access to current information concerning mutations of the phenylalanine hydroxylase (PAH) gene. The majority of such mutations result in deficient activity of the liver enzyme phenylalanine hydroxylase and abnormal accumulation and excretion of dietary phenylalanine (hyperphenylalaninemia). The most severe manifestation may be PKU, while, in other cases, affected individuals may have benign conditions that cause few or no apparent symptoms. PAH mutation data within the database is collated from both published articles as well as communications from approximately 90 investigators across the world who are members of the PAH Mutation Analysis Consortium. The database provides online users several searchable fields including mutation name, population, geographic location, gene region, mutation type, phenotype, author’s name, etc. The complete information provided for each mutation is regularly updated from both published data and personal communications from consortium members.
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