P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment
Genetics in Medicine Open, 2023 Charles Lourenco +5 more
doaj +2 more sources
Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria". [PDF]
J Inherit Metab DisJournal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
Carling RS, Whyte E, Moat SJ.
europepmc +2 more sources
Real-World Administration Practices of Sapropterin in Paediatric and Adults with Phenylketonuria: Results from a United Kingdom Cross-Sectional Survey. [PDF]
NutrientsBackground/Objectives: Sapropterin dihydrochloride is an established treatment option for individuals with phenylketonuria (PKU) who demonstrate responsiveness, but uncertainty persists regarding dosing frequency, timing relative to meals, the influence ...
Tosi M +9 more
europepmc +2 more sources
Sapropterin dihydrochloride for phenylketonuria [PDF]
Cochrane Database of Systematic Reviews, 2009 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.
Usha Rani, Somaraju, Marcus, Merrin
openaire +4 more sources
Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
Frontiers in Bioengineering and Biotechnology, 2022 Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Maximiliano L. Cacicedo +11 more
doaj +1 more source
Molecular Genetics and Metabolism, 2023 Phenylketonuria is characterized by intellectual disability and behavioral, psychiatric, and movement disorders resulting from phenylalanine (Phe) accumulation. Standard-of-care treatment involves a Phe-restricted diet plus medical nutrition therapy (MNT)
Barbara K. Burton +10 more
semanticscholar +1 more source
Biomedicines, 2022 Background: The effects of diabetes on the cardiovascular system as well as in the kidney are profound, which include hypertrophy and fibrosis. Diabetes also induces oxidative stress, at least in part due to the uncoupling of nitric oxide synthase (NOS);
Ulises Novoa +5 more
doaj +1 more source
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
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]
JIMD RepABSTRACT 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 +7 more
europepmc +2 more sources
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]
J Inherit Metab DisABSTRACT 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 +5 more
europepmc +2 more sources