Results 11 to 20 of about 474 (133)

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi‐Site Study [PDF]

JIMD Reports
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,
Suzanne Hollander, Briana Valli, Erika Vucko, Melissa Lah, Amarilis Sanchez‐Valle, Brittany M. Murray, Amy Kritzer, Stephanie Sacharow   +7 more
doaj   +5 more sources

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase [PDF]

Molecular Genetics and Metabolism Reports
Treatment of phenylketonuria (PKU) has evolved since the initial introduction of a phenylalanine (Phe) restricted diet. The most recent option for adults affected with PKU is treatment with an alternate enzyme, phenylalanine ammonia lyase (PAL), that ...
Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall   +12 more
doaj   +5 more sources

A Comprehensive Review of Pegvaliase, an Enzyme Substitution Therapy for the Treatment of Phenylketonuria

Drug Target Insights, 2019
Objective: To review the pharmacology, pharmacokinetics, efficacy, safety, and place in therapy of a phenylalanine-metabolizing enzyme indicated to reduce blood phenylalanine concentrations, pegvaliase injection.
Tasmina Hydery, Valerie Azzopardi Coppenrath   +1 more
doaj   +7 more sources

Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report [PDF]

Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism, resulting from the deficient activity of phenylalanine hydroxylase that converts Phe to tyrosine in the liver, leading to elevated levels of Phe.
Nadan Gregoric, Anita Tara, Rebeka Kastelic, Jaka Sikonja, Katarina Peklaj, Mojca Mesojedec, Peter Kopac, Andrej Janez   +7 more
doaj   +3 more sources

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program [PDF]

Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment to keep blood Phe in a safe range ...
Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton   +13 more
doaj   +4 more sources

Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study [PDF]

Molecular Genetics and Metabolism Reports, 2023
Background: Pegvaliase has allowed many adults with phenylketonuria (PKU) to achieve acceptable blood Phe control while eating an unrestricted diet. However, little is known about potential differences in nutritional status and eating behaviors after ...
Krista Viau, Leslie Martell, Ann Wessel, Fran Rohr, Suzanne Hollander, Melissa S. Putman, Stephanie Sacharow   +6 more
doaj   +4 more sources

Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion) [PDF]

Molecular Genetics and Metabolism Reports
Objective: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for ...
Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina   +4 more
doaj   +4 more sources

First successful outcomes of pegvaliase (PALYNZIQ) in children [PDF]

BMC Medical Genomics
Background PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ®) treatment has been approved to reduce blood Phe concentrations in adult phenylketonuria ...
Majid Alfadhel, Rayyan Albarakati
doaj   +4 more sources

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences

Molecular Genetics and Metabolism Reports, 2019
Background: Phenylketonuria (PKU) leads to an accumulation of phenylalanine (Phe) in the blood and subsequent neurologic, cognitive, psychiatric, and behavioral dysfunction. Many patients report social isolation and decreased quality of life.
Sumitra Sri Bhashyam, Kevin Marsh, Adrian Quartel, Haoling H. Weng, Ari Gershman, Nicola Longo, Janet Thomas, Roberto Zori   +7 more
doaj   +5 more sources

Our lives with PKU: German patient voices - “Nothing about us without us” [PDF]

Molecular Genetics and Metabolism Reports
Objectives: Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited.
Karin Lange, Jens Böhmer, Yvonne Deich, Daniel Dickneite, Pascale Fuchs, Verena Naunheim, Angelika Scholz, Christian Heimbold   +7 more
doaj   +3 more sources