phenylketonuria / PKU

Genetic disease characterized by mental retardation, light skin, and eczema; caused by mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that normally metabolizes the amino acid phenylalanine. When the enzyme is defective, phenylalanine is not metabolized and builds up to high levels in the body, eventually causing mental retardation and other characteristics of the disease. The disease is inherited as an autosomal recessive disorder and can be effectively treated by limiting phenylalanine in the diet.