PKU (McKusick 261600) is an autosomal recessive disorder caused by deficiency of PAH (L-phenylalanine-4-monooxygenase; EC 1.14.16.1), which is predominantly expressed in the liver. PAH catalyzes ...

Researchers have shed new light on the structure of phenylalanine hydroxylase (PAH) -- the enzyme that is defective in patients with Phenylketonuria (PKU). Phenylketonuria, also known as PKU ...

with more than 1000 genetic mutations in PAH having been identified, but for some PKU cases the PAH gene is perfectly wild-type. Disease etiology is poorly understood. Moreover, modern treatments do ...

In PKU there is a deficiency of phenylalanine hydroxylase ... hydroxylase deficiency via the activity and functioning of the PAH gene on the 12 th chromosome. There are between 1 and 15 faults ...

Phenylketonuria (PKU) is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH. Most of the genetic mutations ...

Palynziq functions by substituting the deficient phenylalanine hydroxylase (PAH) enzyme in PKU with phenylalanine ammonia lyase’s PEGylated version, which helps break down Phe. The treatment ...

The HMI-103 pheEDIT trial is expected to enroll up to nine patients ages 18-55 years old who have been diagnosed with PKU due to PAH deficiency. Once positive safety and efficacy results are ...

While PKU is rare, it can be debilitating. The condition is caused by mutations in a gene called PAH, which encodes a liver enzyme by the same name to metabolize the amino acid phenylalanine.