Results 51 to 60 of about 6,013 (134)

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria

, 2009
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to deficient conversion of phenylalanine (Phe) to tyrosine and accumulation of toxic levels of Phe.
Demirkol, M, Bélanger-Quintana, A, MacDonald, A, Trefz, F K, F. J. van Spronsen, Blau, N, Giovannini, Marcello, A. MacDonald, N. Blau, van Spronsen, F J, Trefz, Friedrich K., F. K. Trefz, Feillet, Francois, Demirkol, Muebeccel, MacDonald, Anita, F. Feillet, M. Giovannini, Giovannini, M, Belanger-Quintana, Amaya, Feillet, F, Blau, Nenad, A. Bèlanger Quintana, van Spronsen, Francjan J., F. K. Trafz, M. Demirkol   +24 more
core   +1 more source

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study

MicrobiologyOpen, Volume 14, Issue 6, December 2025.
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Zhijuan Liu, Minggang Ye, Huiya Jin, Weixia Chen, Hasitiyaer Jieens, Rui Han   +5 more
wiley   +1 more source

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH₄)

Gynecological Endocrinology, 2014
A woman with phenylketonuria (PKU) was diagnosed through neonatal screening, her PAH mutation was p.V388M/p.I65T, for which she received treatment with phenylalanine restriction, and was administered oral sapropterin dihydrochloride (6R-BH(4)) from the age of thirty. The purpose of this article is to describe the treatment with BH4 during her pregnancy
Luis, Aldámiz-Echevarría, Maria L, Couce, Marta, Llarena, Fernando, Andrade   +3 more
openaire   +2 more sources

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Polina Gundorova, Behnam Yousefi, Mathias Woidy, Malcolm Summer Rose‐Heine, Robin Khatri, Viviane Kasten, Stefan Bonn, Ania Carolina Muntau, Soeren Waldemar Gersting   +8 more
wiley   +1 more source

Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association ...
Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker   +6 more
wiley   +1 more source

Treatment of phenylketonuria with sapropterin dihydrochloride

, 2015
Phenylketonuria (PKU) is an inherited disorder that increases the levels of an amino acid phenylalanine in the blood. Phenylalanine is found in all proteins and in some artificial sweeteners.Phenylketonuria is caused by mutations in the PAH gene ...
Ivanova, Natasha, Stefanova, Aleksandra, Mitsova, Dimana, Stoyanova, Elena   +3 more
core   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +1 more source

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear.
Raphaela Muri, Murray Bruce Reed, Stephanie Maissen‐Abgottspon, Roland Kreis, Michel Hochuli, Rupert Lanzenberger, Roman Trepp, Regula Everts   +7 more
wiley   +1 more source

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi   +2 more
wiley   +1 more source