5C50.00
Classical phenylketonuria
Fenilcetonúria clássica
CategoryDefinition
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterised in untreated patients by severe intellectual deficit and neuropsychiatric complications.
Index Terms
Classical phenylketonuriaphenylpyruvic oligophreniaoligophrenia phenylpyruvicaimbecilitus phenylpyruvicaTypical phenylketonuriaphenylpyruvic aciduriaPAH - [phenylalanine hydroxylase] deficiencyhyperphenylalaninaemia Type ITypical PKU - [phenylketonuria]Folling diseaseClassical phenylketonuria, phenylalanine hydroxylase partial deficiencyClassical phenylketonuria, phenylalanine hydroxylase total deficiency