Abstract
Phenylketonuria is a metabolic disease of human beings that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Catabolism by PAH is reduced and hyperphenylalaninaemia ensues. Phenylketonuria is inherited in a Mendelian recessive manner, and the severity of the metabolic phenotypes is ranked by plasma concentration of phenylalanine before treatment and phenylalanine daily tolerance.
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