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Keyword Phenylketonuria

UniProtKB (5) rdf/xml obo
DefinitionProtein which, if defective, causes phenylketonuria, an autosomal recessive disorder in which the body is unable to break down the amino acid phenylalanine. The resulting buildup of phenylalanine in the body causes mental retardation, mental disturbances, eczema and skin pigmentation.