Тreatment of phenylketonuria

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria (IDrugs. 2007 Nov;10(11):805-813.). Author is Burnett JR from the Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine & Pharmacology, University of Western Australia. Phenylketonuria (PKU) and mild hyperphenylalaninemia (HPA) are genetic disorders characterized by a deficiency in phenylalanine hydroxylase (PAH), resulting in intellectual impairment if not treated with dietary restriction of phenylalanine intake. Sapropterin dihydrochloride (Kuvan) is an orally active synthetic form of (6R)-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4; a cofactor for PAH) that has received Orphan Drug status and Fast Track designation for the treatment of PKU. Phase II and III clinical data demonstrated that Kuvan was a safe and effective therapy in selected patients with HPA and mild-to-moderate PKU. To access the full abstract of the article, click here.