Results 41 to 50 of about 6,013 (134)

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial [PDF]

, 2017
Background: Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylketonuria. The aim of the SPARK
Moreau-Stucker, Flavie, Ania C. Muntau, Muntau, Ac, Freisinger, P, De Laet, Corinne, De Laet, C, Munafo, A, Eyskens, François J M F., Vijay, S, Suresh Vijay, Mould, Diane D.R., Sivri, Hs, Burlina, A, Mould, Dr, Cleary, Maureen, Gwendolyn Gramer, Alain Munafo, Sivri, Hatice Serap, Corinne De Laet, Mould, Diane R., Eyskens, Francois, Cleary, M, Laet, Corinne de, Gramer, G, Munafo, Alain, Vijay, Suresh, Moreau Stucker, F, Lotz Havla, As, Cleary, Maureen Anne M., Rogoff, D., François Eyskens, Daniela Rogoff, Flavie Moreau-Stucker, Rogoff, Daniela, Bal, Mo, Sivri, H. Serap, Lotz-Havla, Amelie S., Vincenzo Leuzzi, Maureen Cleary, Peter Freisinger, Frank Rutsch, Muntau, Ania C., Milva Orquidea Bal, Eyskens, Fran\ue7ois, Diane R. Mould, Muntau, Ania Carolina, Burlina, Alberto, Amelie S. Lotz-Havla, Rutsch, Frank, Bal, Milva Orquidea, Rutsch, F, Freisinger, Peter, Renata Pazdírková, H. Serap Sivri, Lotz-Havla, Amelie Sophia, Gramer, Gwendolyn, Eyskens, F, Pazdírková, Renata, Leuzzi, Vincenzo, Pazdírková, R, Alberto Burlina   +60 more
core   +1 more source

Additional file 1 of Italian national consensus statement on management and pharmacological treatment of phenylketonuria

, 2021
Additional file 1: A thorough dissertation about literature and discussion among the SC for some clinical topics: Multidisciplinary team, Follow-up, Sapropterin dihydrochloride during pregnancy, Sapropterin efficacy, Pegvaliase induction, titration and ...
Marco Spada (236228), Juri Zuvadelli (11388053), Sabrina Paci (9672446), Francesca Pochiero (6040706), Alberto Burlina (3543140), Maria Teresa Carbone (9672443), Giacomo Biasucci (11716503), Chiara Cazzorla (11716506), Albina Tummolo (9672449), Vincenzo Leuzzi (500280)   +9 more
core   +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

Pharmacokinetics of sapropterin in patients with phenylketonuria

, 2008
Background and objective: Untreated phenylketonuria is characterized by neurocognitive and neuromotor impairment, which result from elevated blood phenylalanine concentrations.
L. Clarke, M. Lipson, P. Harmatz, Sapropterin Research Group, D. R. Mould, E. Foehr, A. A. Morris, A. Dorenbaum, B. Green, C. Meli, F. Feillet, M. Giovannini   +11 more
core   +1 more source

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

Orphanet Journal of Rare Diseases, 2019
Background Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment ...
K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder, F. Rutsch   +12 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +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

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria

MedComm, Volume 7, Issue 6, June 2026.
In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
Noemí López‐Rey, Alba Cabaleiro, María P. Pata, Marion Peyrou, Ánxela Estévez‐Salguero, Paola Fernández‐Sanmartín, Donald A. Morgan, Vitor Ferreira, Paula Sánchez‐Pintos, Cintia Folgueira, Carlos Diéguez, Adela Urisarri, Ismael González‐García, Luisa M. Seoane, Kamal Rahmouni, Francesc Villarroya, María L. Couce, Rubén Nogueiras, Miguel López   +18 more
wiley   +1 more source

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 more
wiley   +1 more source

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein

Clinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Lan Gao, Neil Smith, Ronald Kong
wiley   +1 more source