[1] For those with phenylketonuria, however, a severe deficiency in the enzyme
phenylalanine hydroxylase prevents conversion of phenylalanine to tyrosine, making tyrosine an essential amino acid for this population.
Koch discusses the enzyme deficiency: «Phenylketonuria (PKU) is caused by an autosomal recessive defect in the enzyme
phenylalanine hydroxylase, which is required for converting phenylalanine to tyrosine.
He developed a Quebec - wide database tracking the incidence of genes that cause metabolic disorders, and his laboratory hosted the online
phenylalanine hydroxylase locus knowledgebase, or PAHdb, a resource for scientists and clinicians.
The role of reversible phosphorylation in the hormonal control of
phenylalanine hydroxylase in isolated rat proximal kidney tubules
Phenylketonuria: Phenylketonuria (PKU) is a genetic metabolic disorder in which a baby is born without an important enzyme known as
phenylalanine hydroxylase (PAH).
Woo's technique may one day be used to treat the metabolic disorder phenylketonuria (PKU), in which the gene for the hepatic enzyme known as
phenylalanine hydroxylase (PAH) is defective.