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.
Fernanda Sperb-Ludwig +2 more
exaly +4 more sources
Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria [PDF]
Molecular Genetics and Metabolism ReportsBackground: Treatment in phenylketonuria (PKU) is aimed at lowering blood phenylalanine (Phe) levels, however the target blood Phe levels in adults with PKU are a matter of ongoing debate.
C.M.A. Lubout +6 more
doaj +2 more sources
Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies [PDF]
BiologyPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene, resulting in toxic phenylalanine accumulation that, if untreated, causes profound ...
Faris J. Tayeb, Rashid Mir, Sael Alatawi
doaj +2 more sources
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.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj +2 more sources
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
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns [PDF]
Molecular Genetics and Metabolism ReportsBackground: Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency, resulting in elevated plasma phenylalanine (Phe) levels.
Jariya Upadia +5 more
doaj +2 more sources
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed [PDF]
Archives of Razi Institute, 2023 Phenylalanine (PHE) is an essential amino acid. Dietary PHE converts to tyrosine by phenylalanine hydroxylase (PAH) activity. Phenylketonuria (PKU) is an autosomal-recessive disorder resulting from PAH enzyme deficiency.
O. A Thoalnoon +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase ...
Ania C. Muntau +12 more
doaj +1 more source
Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness
Children, 2021 The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen +4 more
doaj +1 more source
Recommendations on phenylketonuria in Turkey
The Turkish Journal of Pediatrics, 2022 Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun +4 more
doaj +1 more source