PKU is an inherited metabolic disease caused by mutations that affect the folding and turnover of phenylalanine hydroxylase (PAH), an enzyme responsible for converting phenylalanine to tyrosine.

You have full access to this article via your institution. Pulmonary arterial hypertension (PAH) is a chronic progressive disease characterized by endothelial cell (EC) dysfunction, substantial ...

PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...

It is caused by a change in the PAH gene. The PAH gene contains the information required to make the enzyme which breaks down phenylalanine in the liver. Phenylalanine is found in food and ...

Sepiapterin (formerly PTC923), an oral formulation of synthetic sepiapterin, has a dual mechanism of action to increase activity of the phenylalanine hydroxylase (PAH) enzyme. First, sepiapterin ...

Sapropterin dihydrochloride 100mg; per pkt; pwd for oral soln. Javygtor is a synthetic form of BH4, the cofactor for the enzyme phenylalanine hydroxylase (PAH). PAH hydroxylates Phe through an ...

Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough ...