"This positive opinion is great news for the PKU patient community in Europe ... intracellularly to tetrahydrobiopterin (BH4), a critical cofactor of PAH. Sephience also has an independent ...

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.

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 ...

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 ...