[HTML][HTML] International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
AC Muntau, DJ Adams, A B�langer-Quintana…�- Molecular Genetics and�…, 2019 - Elsevier
Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine
hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe)
concentration can have detrimental effects on brain development and function, international
guidelines recommend lifelong control of blood Phe concentration with dietary and/or
medical therapy. Sapropterin dihydrochloride is a synthetic preparation of
tetrahydrobiopterin (6R-BH4), the naturally occurring cofactor of PAH. It acts as a�…
hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe)
concentration can have detrimental effects on brain development and function, international
guidelines recommend lifelong control of blood Phe concentration with dietary and/or
medical therapy. Sapropterin dihydrochloride is a synthetic preparation of
tetrahydrobiopterin (6R-BH4), the naturally occurring cofactor of PAH. It acts as a�…