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New insights into the structure and function of human phenylalanine hydroxylase...

Tese de doutoramento, Farmácia (Bioquímica), Universidade de Lisboa, Faculdade de Farmácia, 2011 ; Phenylketonuria (PKU) is an autosomal recessive human inborn error of metabolism caused by dysfunction of the liver homotetrameric/homodimeric enzyme phenylalanine hydroxylase (hPAH), which results in increased levels of L-phenylalanine (L-Phe) in the blood and if untreated causes severe mental retardation. More ...