Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective [PDF]
Nutrition and Dietary Supplements, 2021 Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7– 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of ...
Bernstein L +8 more
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Evaluating adverse events of pegvaliase-pqpz in phenylketonuria treatment: A comprehensive safety assessment [PDF]
SAGE Open MedicineObjectives: In 2018, the Food and Drug Administration approved pegvaliase-pqpz as an enzyme replacement therapy to lower blood phenylalanine levels in adults with phenylketonuria. However, its potential side effects have not been fully explored in a real-
Kai Yan +6 more
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Continuation of pegvaliase treatment during pregnancy: A case report
Molecular Genetics and Metabolism Reports, 2021 Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels.
Monica Boyer +5 more
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EBioMedicine, 2018 Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Soumi Gupta +14 more
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Case-control study about the acceptance of Pegvaliase in Phenylketonuria [PDF]
Molecular Genetics and Metabolism Reports, 2020 Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj +6 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 +3 more sources
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients. [PDF]
Eur J NeurolAbstract Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase enzyme activity that causes high blood phenylalanine levels. Most adults do not adhere to the gold standard therapy: lifelong treatment with a low‐phenylalanine diet.
Burlina AP +6 more
europepmc +4 more sources
Pegvaliase: a novel treatment option for adults with phenylketonuria
Current Medical Research and Opinion, 2018 Objective: In May 2018, the US Food and Drug Administration approved pegvaliase-pqpz (Palynziq*), the first enzyme substitution therapy for the treatment of phenylketonuria (PKU).
Mahan, Karlie C. +2 more
core +4 more sources
Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria
Molecular Genetics and Metabolism Reports, 2020 Pegvaliase (Palynziq®) was FDA approved in 2018 as an enzyme substitution therapy in patients with Phenylketonuria. However, various drug induced hypersensitivity adverse events (HAEs) have been reported.
Meera Patrawala +2 more
doaj +3 more sources
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase [PDF]
Molecular Genetics and Metabolism ReportsObjective: To assess the impact of pegvaliase treatment on quality of life and individuals' perception of and satisfaction with therapy in Italian individuals with classical phenylketonuria (PKU) after diet liberalization.
Chiara Cazzorla +8 more
doaj +2 more sources