In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficien cy of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogen eous. At the molecular level, more than 400 mutations in the PAH gene are k nown to date, which in different genotype combinations could account for bi ochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.