Results 41 to 50 of about 669 (133)

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

Orphanet Journal of Rare Diseases, 2018
Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone.
Ania C. Muntau, Marcel du Moulin, Francois Feillet   +2 more
doaj   +1 more source

Safety of sapropterin dihydrochloride (6r–bh4) in patients with pulmonary hypertension

Experimental Lung Research, 2010
The authors investigated the safety of oral tetrahydrobiopterin (BH4), a cofactor for nitric oxide synthesis, as a novel treatment for pulmonary hypertension (PH). Eighteen patients with pulmonary arterial hypertension or inoperable chronic thromboembolic PH received sapropterin dihydrochloride (6R-BH4), the optically active form of BH4, in addition to
Ivan M, Robbins, Anna R, Hemnes, J Simon, Gibbs, Brian W, Christman, Luke, Howard, Sharon, Meehan, Ines, Cabrita, Rochelle, Gonzalez, Tracy, Oyler, Lan, Zhao, Rui-Hong, Du, Lisa A, Mendes, Martin R, Wilkins   +12 more
openaire   +2 more sources

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

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

Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? [PDF]

, 2011
The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor.
K. Dokoupil, Anita MacDonald, Anna Maria Lammardo, K. Ahring, A. MacDonald, M. van Rijn, Margreet van Rijn, K. Motzfeldt, Kirsten Ahring, Katharina Dokoupil, Amaya Bélanger-Quintana, van Rijn, Margreet, A. Bélanger Quintana, Hulya Gokmen-Ozel, Júlio César Rocha, M. Robert, Martine Robert, Robert, M., MacDonald, Anita, Ahring, Kirsten, Robert, Martine, Rocha, Julio Cesar, GÖKMEN ÖZEL, HÜLYA, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, Belanger-Quintana, Amaya, H. Gokmen Ozel, Motzfeldt, Kristina, Kristina Motzfeldt, J. C. Rocha, A.M. Lammardo   +31 more
core   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
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

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