Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the PAH misfolding, and in this respect pharma...

Phenylalanine hydroxylase (Ec 1.14.16.1) catalyses the initial step of phenylalanine degradation in man and other mammals. Although the liver is the primary location of the enzyme, an appreciable amount is also found in the renal cortex [I]. The regulatory properties of the hepatic enzyme are well known. In the short-term, enzymic activity is controlled by reversible phosphorylation [2]. Glucag...