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
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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 ...
Dorothy K Grange +2 more
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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 +8 more
doaj +7 more sources
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.
Akira Ohtake, Taro Yamazaki
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Safety Assessment of Sapropterin Dihydrochloride: Real-World Adverse Event Analysis Based on the FDA Adverse Event Reporting System (FAERS) [PDF]
Frontiers in PharmacologyObjectiveSapropterin 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, Jiahong Zhong
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Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring [PDF]
NutrientsBackground: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications.
Martino Ruggieri +2 more
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The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria [PDF]
ChildrenPatients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.
Ana Jaqueline Nunes +10 more
doaj +5 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 Aims The aim of the present meta‐analysis was to evaluate the efficacy and safety of sapropterin dihydrochloride in phenylketonuria (PKU) patients. Methods The following databases were searched for randomized ...
Yi-Min Cui, Jinghan Qu, Ying Zhou
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A Prospective Population Pharmacokinetic Analysis of Sapropterin Dihydrochloride in Infants and Young Children With Phenylketonuria [PDF]
Clinical Pharmacokinetics, 2015 Untreated phenylketonuria (PKU), a hereditary metabolic disorder caused by a genetic mutation in phenylalanine hydroxylase (PAH), is characterized by elevated blood phenylalanine (Phe) and severe neurologic disease. Sapropterin dihydrochloride, a synthetic preparation of naturally occurring PAH cofactor tetrahydrobiopterin (BH4), activates residual PAH
Diane R Mould, Markus Meriläinen
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Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria [PDF]
Molecular Therapy: Nucleic AcidsLow 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 +6 more
doaj +2 more sources