Results 91 to 100 of about 2,156 (206)

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

Long-term efficacy of sapropterin in phenylketonuria: a systematic review and meta-analysis of blood phenylalanine reduction, dietary tolerance, and patient-related outcomes

Orphanet Journal of Rare Diseases
Phenylketonuria (PKU) is an inherited metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired phenylalanine (Phe) metabolism.
R. Leonardi, Manuela Lo Bianco, A. Sapuppo, Concetta Meli, Alessia Migliore, L. La Spina, Giuseppina Lanzafame, M. Pappalardo, Riccardo Iacobacci, A. Arena, G. Privitera, Martino Ruggieri, A. Polizzi, A. Praticò   +13 more
semanticscholar   +1 more source

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)

, 2016
Central nervous system (CNS) deficiencies of the monoamine neurotransmitters, dopamine and serotonin, have been implicated in the pathophysiology of neuropsychiatric dysfunction in phenylketonuria (PKU). Increased brain phenylalanine concentration likely
Harding, Cary O, Winn, Shelley R, Thöny, Beat; https://orcid.org/, Scherer, Tanja, Harding CO, Winn SR, Scherer T, Thöny B   +7 more
core   +1 more source

Sapropterin [PDF]

British Journal of Clinical Pharmacology, 2010
Eline A, Dubois, Adam F, Cohen
openaire   +2 more sources

Multi-disciplinary implementation of sapropterin for treatment of phenylketonuria patients in a Regional Metabolic Centre

, 2023
Phenylketonuria (PKU) is a rare, autosomal recessive metabolic disorder caused by deficiency of phenylalanine hydroxylase affecting about 1/10,000 babies born in the UK, requiring lifelong treatment with an ultra-low protein diet to restrict ...
Geberhiwot, Tarekegn, Robertson, Louise, Dawson, Charlotte, Ochoa-Ferraro, Antonio, Dale, Clare, Howe, Sarah   +5 more
core  

Say NO to ROS: Their Roles in Embryonic Heart Development and Pathogenesis of Congenital Heart Defects in Maternal Diabetes

Antioxidants, 2019
Congenital heart defects (CHDs) are the most prevalent and serious birth defect, occurring in 1% of all live births. Pregestational maternal diabetes is a known risk factor for the development of CHDs, elevating the risk in the child by more than four ...
Anish Engineer, Tana Saiyin, Elizabeth R. Greco, Qingping Feng   +3 more
doaj   +1 more source

Changing dietary practices in phenylketonuria

The Turkish Journal of Pediatrics, 2009
In recent years, there has been much focus on research on non-dietary treatments in phenylketonuria (PKU). However, diet is likely to remain the major treatment for many years to come, since it has continued to be developed and consistent ...
Anita Macdonald, Hülya Gökmen-Ozel, Anne Daly   +2 more
doaj  

Navigating social determinants of health barriers in the management of phenylketonuria

Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients ...
Ashley Andrews, Kate McMinimee
doaj   +1 more source

Phenylketonuria in Brazil: a narrative review on treatment and public policies regarding patient and family demands [PDF]

Brazilian Journal of Food Technology
Phenylketonuria (PKU) is an autosomal recessive disorder that affects phenylalanine metabolism and, if left untreated, leads to severe intellectual disability, behavioral problems, cognitive impairments, and other dysfunctions. This study aimed to assess
Daniele Cristina da Silva Napoli, Kaciane Andreola, Maria Teresa Bertoldo Pacheco   +2 more
doaj   +2 more sources

Use of Special Medical Foods with Sapropterin in PKU

, 2019
Background: Phenylketonuria (PKU) is treated with a low phenylalanine (Phe) diet but strict dietary adherence is bur- densome. Sapropterin responsive patients with PKU have an improved Phe tolerance and thereby patients eat more natu- ral protein ...
Yılmaz, Özlem
core