Results 51 to 60 of about 474 (133)

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria [PDF]

Genetics in Medicine, 2019
Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range. The availability of pegvaliase (PALYNZIQ™, an enzyme that can metabolize Phe) as a new therapy necessitates the provision of guidance for its use.A Steering Committee comprising 17 health-care ...
Nicola Longo, David Dimmock, Harvey Levy, Krista Viau, Heather Bausell, Deborah A. Bilder, Barbara Burton, Christel Gross, Hope Northrup, Fran Rohr, Stephanie Sacharow, Amarilis Sanchez-Valle, Mary Stuy, Janet Thomas, Jerry Vockley, Roberto Zori, Cary O. Harding   +16 more
openaire   +2 more sources

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

, 2018
Introduction Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU).
Barbara K. Burton, John Posner, Cary O. Harding, Amato, R. Stephen, Posner, John, Markus Merilainen, Merilainen, Markus, Gu, Zhonghua, Jiang, Joy, Joy Jiang, Nicola Longo, Zhonghua Gu, Longo, Nicola, Harding, Cary O., Mary Stuy, R. Stephen Amato, Jerry Vockley, Haoling H. Weng, Weng, Haoling H., Stuy, Mary, Burton, Barbara K., Vockley, Jerry   +21 more
core   +1 more source

Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase) [PDF]

, 2017
Pegylated recombinant phenylalanine ammonia lyase (pegvaliase) is an enzyme substitution therapy being evaluated for the treatment of phenylketonuria (PKU).
William L. Zeile, Cooper, Jonathan D., Jonathan D. Cooper, Marc Goldfinger, O'Neill, Charles A., Philip J. Laipis, Zeile, William L., Corado, Carley R., Carley R. Corado, Laurie S. Tsuruda, Laipis, Philip J., Tsuruda, Laurie S., Charles A. O'Neill, Goldfinger, Marc   +13 more
core   +1 more source

Mapping the Severity of Phenylalanine Hydroxylase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema, E. M. van Steenis, C. M. A. Lubout, M. R. Heiner‐Fokkema, J. Zschocke, F. J. van Spronsen   +5 more
wiley   +1 more source

Characterization of Choline Nutriture among Adults and Children with Phenylketonuria

, 2022
Choline is an essential nutrient for brain development and function that is attained through high-protein foods, which are limited in the phenylalanine-restricted diet of people with phenylketonuria (PKU).
Usha Ramakrishnan, Schoen, Meriah S., Jessica A. Alvarez, Alvarez, Jessica A., Meriah S. Schoen, Cui, Xiangqin, Xiangqin Cui, Ramakrishnan, Usha, Rani H. Singh, Singh, Rani H., Thomas R. Ziegler, Ziegler, Thomas R.   +11 more
core   +1 more source

Psychosocial impact and residual resource needs following institution of enzyme substitution therapy for PKU [PDF]

, 2021
Background: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders and the first to be included on newborn screening. Even treated, it can impact quality of life (QoL) due to strict dietary management and potential for ...
Sprague, Trinity
core  

Genetic etiology and clinical challenges of phenylketonuria

Human Genomics, 2022
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the ...
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara   +11 more
doaj   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Brain Age in Adult Patients With Early‐Treated Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early‐treated classical PKU compared to healthy controls. Thirty early‐treated adults with classical PKU (age 19–48 years) and 59 age‐
Laura Winiger, Raphaela Muri, Tobias Kaufmann, Michel Hochuli, Emma Vardy, Piotr Radojewski, Katarzyna Pospieszny, Roman Trepp, Regula Everts   +8 more
wiley   +1 more source

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls

Molecular Genetics and Metabolism Reports, 2020
Background: Phenylketonuria (PKU) treatment consists of life-long protein restriction and Phe-free medical foods for adequate nutritional intake and growth.
Melissa Sailer, Gabriela Elizondo, Julie Martin, Cary O. Harding, Melanie B. Gillingham   +4 more
doaj   +1 more source