Results 81 to 90 of about 2,156 (206)

Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low ...
Florentina Moldovanu, Radu Bogdan Calin, Micaela Iuliana Nanu, Marina Ruxandra Otelea   +3 more
doaj   +1 more source

Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Corentin Gondrand, Anna T. Reischl‐Hajiabadi, Estelle Bonedeau, Nicolas Weiß, Gerd Schneider, Maurice Fahn, Frederic Myers, Philipp Minel Städle, Kathrin Jeltsch, Georg F. Hoffmann, Jürgen G. Okun, Dorothea Haas, Sven F. Garbade, Kai Johnsson, Thomas Opladen   +14 more
wiley   +1 more source

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

Molecular Genetics and Metabolism Reports, 2017
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Zoë Hawks, Joshua Shimony, Jerrel Rutlin, Dorothy K. Grange, Shawn E. Christ, Desirée A. White   +5 more
doaj   +1 more source

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

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?

Molecular Genetics and Metabolism
Sapropterin dihydrochloride, the synthetic form of tetrahydrobiopterin (BH4), is an established pharmacological treatment for a subset of patients with phenylalanine hydroxylase (PAH) deficiency. Yet the clinically simple question of whether a patient is
N. Blau
semanticscholar   +1 more source

Dietary intervention in the management of phenylketonuria: current perspectives

Pediatric Health, Medicine and Therapeutics, 2016
Júlio César Rocha,1-3 Anita MacDonald4 1Centro de Genética Médica, Centro Hospitalar do Porto – CHP, 2Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, 3Center for Health Technology and Services ...
Rocha JC, MacDonald A
doaj  

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

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Journal of Inborn Errors of Metabolism and Screening, 2018
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT.
Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD   +11 more
doaj   +1 more source

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Orphanet Journal of Rare Diseases, 2018
Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance.
Kristen D Brantley, Teresa D Douglas, Rani H Singh   +2 more
doaj   +1 more source