Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
The Turkish Journal of Pediatrics, 2015 Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients.
Özlem Ünal +8 more
doaj +6 more sources
Sapropterin dihydrochloride for phenylketonuria. [PDF]
Cochrane Database Syst Rev, 2015 Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients.
Somaraju UR, Merrin M.
europepmc +9 more sources
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]
J Inherit Metab DisAbstract Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe tolerance in sapropterin‐responsive individuals. KAMPER (NCT01016392) is an observational,
Feillet F +12 more
europepmc +4 more sources
Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report [PDF]
Nutrients, 2023 Funding Information: M.I.G. has received a Recordati Rare Disease Grant Ed. 2021–2022 from the Portuguese Society of Metabolic Diseases (SPDM) to develop this work in the worth of 3000€. Funding Information: M.I.G.
A Daly, Catherine Ashmore, S Evans
exaly +4 more sources
Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta‐analysis of randomized controlled trials [PDF]
British Journal of Clinical Pharmacology, 2019 AimsThe aim of the present meta‐analysis was to evaluate the efficacy and safety of sapropterin dihydrochloride in phenylketonuria (PKU) patients.MethodsThe following databases were searched for randomized controlled trials (RCT) regarding PKU patients treated with sapropterin dihydrochloride: PubMed, Embase, Cochrane Library and clinicaltrials.
Jinghan Qu, Lingyun Ma, Ying Zhou
exaly +5 more sources
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria [PDF]
Molecular Genetics and Metabolism, 2010 Sapropterin dihydrochloride, a synthetic, stable form of the tetrahydrobiopterin cofactor of phenylalanine hydroxylase, has been shown to reduce plasma phenylalanine (Phe) levels in a significant portion of patients with phenylketonuria (PKU). When we undertook introducing this medication to our PKU clinic population, the challenges of recalling and ...
Hilary J Vernon +2 more
exaly +5 more sources
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU). [PDF]
Mol Genet Metab, 2016 Central nervous system (CNS) deficiencies of the monoamine neurotransmitters, dopamine and serotonin, have been implicated in the pathophysiology of neuropsychiatric dysfunction in phenylketonuria (PKU). Increased brain phenylalanine concentration likely competitively inhibits the activities of tyrosine hydroxylase (TH) and tryptophan hydroxylase (TPH),
Winn SR +3 more
europepmc +6 more sources
Use of sapropterin in Mexican patients with yperphenylalaninemia
Acta Pediátrica de México, 2014 Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo +2 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2021 Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase ...
Ania C. Muntau +12 more
doaj +2 more sources
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
Expert Opinion on Drug Metabolism & Toxicology, 2013 Phenylketonuria (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.
Blau, Nenad
openaire +4 more sources