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 +6 more sources
Changing dietary practices in phenylketonuria [PDF]
The Turkish Journal of Pediatrics, 2009 In recent years, there has been much focus on research on non-dietary treatments in phenylketonuria (PKU). However, diet is likely to remain the major treatment for many years to come, since it has continued to be developed and consistent ...
Anita Macdonald +2 more
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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
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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.
Gama MI +6 more
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Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]
J Inherit Metab DisABSTRACT 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 +9 more
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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
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
Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]
J Inherit Metab DisABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Himmelreich N, Blau N.
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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
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Orphanet Journal of Rare Diseases, 2021 Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina +9 more
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