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American Journal of Medical Genetics, Part A, 2008 AbstractPhenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation, which can lead to neurocognitive and neuromotor impairment. Sapropterin dihydrochloride, an FDA‐approved synthetic formulation of tetrahydrobiopterin (6R‐BH4, herein referred to as sapropterin) is effective in reducing plasma Phe ...
Marcello Giovannini +2 more
exaly +4 more sources
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Sapropterin Dihydrochloride Tablets
Hospital Pharmacy, 2008Each month, subscribers to The Formulary Monograph Service receive 5 to 6 well-documented monographs on drugs that are newly released or are in late phase 3 trials. The monographs are targeted to your Pharmacy & Therapeutics Committee. Subscribers also receive monthly 1-page summary monographs on the agents that are useful for agendas and pharmacy ...
Dennis J. Cada +2 more
openaire +1 more source
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Journal of Inherited Metabolic Disease, 2014AbstractSapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the phenotypes of these patients, their ...
Feillet, François +7 more
openaire +3 more sources
PP14 Budget Impact Of Sapropterin Dihydrochloride For Phenylketonuria
International Journal of Technology Assessment in Health Care, 2019IntroductionThe National Committee for Health Technology Incorporation (CONITEC) evaluates health technologies to recommend their inclusion or exclusion within the Brazilian Public Health System (SUS), and uses the budget impact assessment to estimate costs to the system.
Eduardo Mulinari +2 more
openaire +1 more source
A New Case of Maternal Phenylketonuria Treated With Sapropterin Dihydrochloride (6R-BH4)
Gynecological Endocrinology, 2014 Luis Aldámiz-Echevarría +2 more
exaly +2 more sources
Sapropterin dihydrochloride: A new drug and a new concept in the management of phenylketonuria
Drugs of Today, 2010Phenylketonuria (PKU) is characterized by persistent hyperphenylalaninemia, due to mutations in the gene coding for phenylalanine hydroxylase (PAH). If untreated, patients develop profound mental retardation. The principal treatment for PKU is lifelong dietary phenylalanine restriction, requiring the administration of special phenylalanine-free protein
F K, Trefz, A, Belanger-Quintana
openaire +2 more sources
Sapropterin Dihydrochloride (6R-BH4) and Maternal Phenylketonuria Two Case Studies
ICAN: Infant, Child, & Adolescent Nutrition, 2009The dietary treatment of phenylketonuria (PKU) is a success story. However, the Maternal PKU Collaborative Study reported microcephaly, congenital heart defects, facial dysmorphology, and intrauterine and postnatal growth retardation in the offspring of women with blood phenylalanine (phe) concentrations >600 µ mol/L.
Shoji Yano, Kathryn Moseley
exaly +2 more sources
Molecular Genetics and Metabolism, 2012
Sapropterin dihydrochloride, a synthetic tetrahydrobiopterin (BH4), works as a chaperone of phenylalanine hydroxylase (PAH) in phenylketonuria (PKU) to facilitate and stabilize folding of PAH into its most active conformation. No standard pharmacogenetic tests exist to identify responsive genotypes.
Kyle Rudser, Brenda Diethelm-Okita
exaly +3 more sources
Sapropterin dihydrochloride, a synthetic tetrahydrobiopterin (BH4), works as a chaperone of phenylalanine hydroxylase (PAH) in phenylketonuria (PKU) to facilitate and stabilize folding of PAH into its most active conformation. No standard pharmacogenetic tests exist to identify responsive genotypes.
Kyle Rudser, Brenda Diethelm-Okita
exaly +3 more sources
Molecular Genetics and Metabolism, 2011
Phenylketonuria (PKU) results from impaired breakdown of phenylalanine (Phe) due to deficient phenylalanine hydroxylase (PAH) activity. Sapropterin dihydrochloride (sapropterin, Kuvan®) is the only US- and EU-approved pharmaceutical version of naturally occurring 6R-BH(4), the cofactor required for PAH activity.
Barbara K, Burton +10 more
openaire +2 more sources
Phenylketonuria (PKU) results from impaired breakdown of phenylalanine (Phe) due to deficient phenylalanine hydroxylase (PAH) activity. Sapropterin dihydrochloride (sapropterin, Kuvan®) is the only US- and EU-approved pharmaceutical version of naturally occurring 6R-BH(4), the cofactor required for PAH activity.
Barbara K, Burton +10 more
openaire +2 more sources
Molecular Genetics and Metabolism, 2012
To understand current patient selection, dosing, and response criteria used for sapropterin dihydrochloride (sapropterin, Kuvan®) to treat phenylketonuria (PKU).Results of a 2010 survey of twenty-nine academic medical centers are reported to describe practice patterns in comparison to results of a survey done in 2008 and to what is reported in the ...
Patricia Gordon +2 more
exaly +3 more sources
To understand current patient selection, dosing, and response criteria used for sapropterin dihydrochloride (sapropterin, Kuvan®) to treat phenylketonuria (PKU).Results of a 2010 survey of twenty-nine academic medical centers are reported to describe practice patterns in comparison to results of a survey done in 2008 and to what is reported in the ...
Patricia Gordon +2 more
exaly +3 more sources