Results 1 to 10 of about 523 (90)

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child [PDF]

Molecular Genetics and Metabolism Reports, 2019
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki, Taro Yamazaki, Akira Ohtake   +2 more
exaly   +4 more sources

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS) [PDF]

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Xihui Yu, Zhuomiao Lin, Lin Zhuomiao
exaly   +4 more sources

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]

Molecular Genetics and Metabolism Reports, 2017
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 ...
Zoe Hawks, Joshua S Shimony, Dorothy K Grange   +2 more
exaly   +4 more sources

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride [PDF]

Biologics: Targets and Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
exaly   +4 more sources

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil [PDF]

JIMD Reports, 2021
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny   +8 more
doaj   +2 more sources

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Longo N, Burton BK, Vaghela S, Mu F, Wang A, Smith J, Reichert E, Simpson RB, Sikirica V, Perera S.   +9 more
europepmc   +2 more sources

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria [PDF]

Children
Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.
Ana Jaqueline Nunes, Bianca Fasolo Franceschetto, Lisiane da Gama, Soraia Poloni, Lilia Farret Refosco, Tassia Tonon, Vaneisse Monteiro, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, François Maillot, Ida Vanessa Doederlein Schwartz   +10 more
doaj   +2 more sources

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria [PDF]

Molecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez, Daelyn Y. Richards, Shelley R. Winn, Adrian M. Baris, Anne Vonada, Laura Harper, Cary O. Harding   +6 more
doaj   +2 more sources

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kitayama K, Sakaguchi T, Nakano N, Kabata D, Shintaku H, Hamazaki T.   +5 more
europepmc   +2 more sources

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
ABSTRACT Phenylketonuria (PKU) is an inherited metabolic disorder causing elevated phenylalanine (Phe) levels and neurocognitive impairment if left untreated. While dietary therapy remains the treatment standard, adherence declines during adolescence. Pegvaliase, an injectable enzyme therapy approved for adults > 18 years in the United States, lowers ...
Hollander S, Valli B, Vucko E, Lah M, Sanchez-Valle A, Murray BM, Kritzer A, Sacharow S.   +7 more
europepmc   +2 more sources