Results 11 to 20 of about 6,013 (134)

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four [PDF]

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, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri   +8 more
doaj   +7 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, Ada Hamosh, M R Johnson
exaly   +5 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, Leticia Belmont-Martínez, Cynthia Fernández-Lainez   +2 more
doaj   +2 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, Scherer T, Thöny B, Harding CO.   +3 more
europepmc   +7 more sources

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

Children, 2021
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen, Angela M. Rose, Susan Waisbren, Ayesha Ahmad, Lisa A. Prosser   +4 more
doaj   +2 more sources

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

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, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch   +12 more
doaj   +2 more sources

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

Gynecological Endocrinology, 2016
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.
DURSUN, ALİ, YILDIZ, YILMAZ, TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, Sivri, Serap   +4 more
openaire   +4 more sources

Efficacy and safety of sapropterin before and during pregnancy:Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries [PDF]

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 636-650, July 2024.
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy.
Lagler, Florian B., Arnoux, Jean Baptiste, Feillet, François, Clague, Gillian E., Lindstrom, Kristin, Ficicioglu, Can, Longo, Nicola, Lilienstein, Joshua, Muntau, Ania C., Rowell, Richard, Burlina, Alberto, Trefz, Friedrich K., van Spronsen, Francjan J., Burton, Barbara K.   +13 more
core   +2 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]

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
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
Chabrol, Brigitte, Lagler, Florian B., Rutsch, Frank, Paci, Sabrina, Delgado, María Bueno, Arnoux, Jean Baptiste, Olsson, David, Muntau, Ania C., Feillet, François, Kucuksayrac, Ece, Burlina, Alberto, van Spronsen, Francjan J.   +11 more
core   +2 more sources

Formulation and Optimization of Immediate Release Tablet of Sapropterin Dihydrochloride by Dry Granulation Process [PDF]

Journal of Drug Delivery and Therapeutics
The research aims to develop and evaluate an immediate-release dosage form of sapropterin dihydrochloride to improve efficacy, stability, and patient acceptance in treating hyperphenylalaninemia (HPA), ensuring rapid therapeutic action upon administration.
Rakesh Kumar Jat, Tapan Kumar Jena
openaire   +2 more sources