Sapropterin dihydrochloride for phenylketonuria
نویسندگان
چکیده
منابع مشابه
Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency
10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...
متن کاملNew era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride
Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug Administration and the European Commission, is a novel approach for the treatment of phenylketonuria (PKU), one of the most common inborn errors of metabolism. PKU is caused by an inherited deficiency of the enzyme phenylalanine hydroxylase (PAH), and the pathophysiology of the disorder is relate...
متن کاملPretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligen...
متن کاملLongitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride
BACKGROUND Sapropterin dihydrochloride effectively lowers plasma phenylalanine (Phe) for at least a third of phenylketonuria (PKU) patients, with potential for increased dietary Phe tolerance and decreased medical food requirement. OBJECTIVE To investigate long-term quality of life (QOL) in patients with phenylketonuria (PKU) who took sapropterin (BH4, Kuvan®) for up to one year. METHODS 37...
متن کاملA Prospective Population Pharmacokinetic Analysis of Sapropterin Dihydrochloride in Infants and Young Children with Phenylketonuria
BACKGROUND AND OBJECTIVES Untreated phenylketonuria (PKU), a hereditary metabolic disorder caused by a genetic mutation in phenylalanine hydroxylase (PAH), is characterized by elevated blood phenylalanine (Phe) and severe neurologic disease. Sapropterin dihydrochloride, a synthetic preparation of naturally occurring PAH cofactor tetrahydrobiopterin (BH4), activates residual PAH in a subset of p...
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ژورنال
عنوان ژورنال: Cochrane Database of Systematic Reviews
سال: 2015
ISSN: 1465-1858
DOI: 10.1002/14651858.cd008005.pub4