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Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
Expert Opinion on Drug Metabolism & Toxicology, 2013Phenylketonuria (PKU) is caused by mutation of the enzyme, phenylalanine (Phe) hydroxylase (PAH). The hyperphenylalaninemia characteristic of PKU causes devastating neurological damage if not identified and treated at birth with a Phe-restricted diet.
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Use of sapropterin in the management of phenylketonuria: Seven case reports
Molecular Genetics and Metabolism, 2013Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering ...
H. Ozel Gokmen +9 more
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The effects of sapropterin on urinary monoamine metabolites in phenylketonuria
Molecular Genetics and Metabolism, 2013Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients.
Douglas Bernhard +3 more
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Drugs, 2009
Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the treatment of hyperphenylalaninaemia in patients >or=4 years of age with tetrahydrobiopterin ...
Gillian M. Keating, Mark Sanford
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Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the treatment of hyperphenylalaninaemia in patients >or=4 years of age with tetrahydrobiopterin ...
Gillian M. Keating, Mark Sanford
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Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency
Expert Review of Endocrinology & Metabolism, 2010Sapropterin dihydrochloride is the first registered synthetic form of the naturally occurring cofactor and cosubstrate, tetrahydrobiopterin (BH4). It is essential for the conversion of phenylalanine (Phe) by phenylalanine-4-hydroxylase (PAH) to tyrosine.
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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 ...
Amelie S. Lotz-Havla +7 more
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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.
Nayara Castelano Brito +2 more
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Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL
Stroke, 2014Background and Purpose— Cerebral autosomal–dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells abnormalities, altered ...
R. De Maria +23 more
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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
A Belanger-Quintana, F K Trefz
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Clinical Therapeutics, 2010
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by hyperphenylalaninemia in association with neurocognitive and neuromotor impairment. Sapropterin dihydrochloride (hereafter referred to as sapropterin) administered orally as dissolved tablets is approved by the US Food and Drug Administration for hyperphenylalaninemia ...
William G. Kramer +6 more
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Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by hyperphenylalaninemia in association with neurocognitive and neuromotor impairment. Sapropterin dihydrochloride (hereafter referred to as sapropterin) administered orally as dissolved tablets is approved by the US Food and Drug Administration for hyperphenylalaninemia ...
William G. Kramer +6 more
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