New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Figures & data

Figure 1 Phenylalanine hydroxylation. Phenylalanine is hydroxylated to tyrosine through the catalytic activity of phenylalanine hydroxylase, which requires the presence of the unconjugated pterin cofactor, tetrahydrobiopterin (BH₄). Sapropterin is a synthetic form of BH₄ that augments the endogenous BH₄ supply. During phenylalanine hydroxylation, BH₄ is oxidized to quinonoid dihydrobiopterin (qBH₂). Fully active BH₄ is regenerated through the sequential action of pterin-4a-carbinolamine dehydratase and dihydropteridine reductase (DHPR) or may be synthesized de novo from guanosine triphosphate (GTP).²

Figure 2 Sapropterin dihydrochloride.

ThonyBAuerbachGBlauNTetrahydrobiopterin biosynthesis, regeneration and functionsBiochem J2000347Pt 111610727395

 PubMed Web of Science ®Google Scholar