Results 31 to 40 of about 669 (133)
Sapropterin Dihydrochloride Mixed With Common Foods and Beverages. [PDF]
Top Clin Nutr, 2014 Sapropterin dihydrochloride is used to lower blood phenylalanine levels in tetrahydrobiopterin-responsive phenylketonuria in conjunction with a phenylalanine-restricted diet. This study investigated the solubility and stability of sapropterin tablets and a sapropterin powder formulation when mixed in selected beverages and foods. Solubility was partial
Jurecki ER +6 more
europepmc +4 more sources
Sapropterin Dihydrochloride (6R-BH4) and Maternal Phenylketonuria Two Case Studies
ICAN: Infant, Child, & Adolescent Nutrition, 2009 The dietary treatment of phenylketonuria (PKU) is a success story. However, the Maternal PKU Collaborative Study reported microcephaly, congenital heart defects, facial dysmorphology, and intrauterine and postnatal growth retardation in the offspring of women with blood phenylalanine (phe) concentrations >600 µ mol/L.
Kathryn Moseley +3 more
openaire +2 more sources
Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria [PDF]
Clinical and Experimental Pediatrics, 2023 Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome.
Fatma Nur Keskin +3 more
doaj +1 more source
A prospective population pharmacokinetic analysis of sapropterin dihydrochloride in infants and young children with phenylketonuria. [PDF]
Clin Pharmacokinet, 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
Qi Y +4 more
europepmc +4 more sources
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. [PDF]
Health Qual Life Outcomes, 2013 Abstract Background Sapropterin dihydrochloride effectively lowers plasma phenylalanine (Phe) for at least a third of phenylketonuria (PKU) patients, with potential for increased dietary Phe tolerance and decreased medical food requirement.
Douglas TD +3 more
europepmc +4 more sources
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.
Lo Bianco M +12 more
europepmc +3 more sources
Molecular Genetics and Metabolism Reports, 2022 In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007.
Erika R. Vucko +3 more
doaj +1 more source
International Journal of Medical Biochemistry, 2022 INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli +3 more
doaj +1 more source
The first study of successful pregnancies in Chinese patients with Phenylketonuria
BMC Pregnancy and Childbirth, 2020 Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang +9 more
doaj +1 more source