Results 11 to 20 of about 499,338 (183)

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report [PDF]

Molecular Genetics and Metabolism Reports, 2017
Background: In maternal PKU, protein substitute (PS) is provided by phenylalanine (PHE)-free l-amino acids (AA), but glycomacropeptide-based protein substitute (GMP) is an alternative consideration.
A. Pinto, M.F. Almeida, A. Cunha, C. Carmona, S. Rocha, A. Guimas, R. Ribeiro, C.R. Mota, E. Martins, A. MacDonald, J.C. Rocha   +10 more
doaj   +2 more sources

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives [PDF]

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Junfei Cao, Lennart Kruizinga, Iris B. Hovens, Els van der Goot, Robbert Havekes, Eddy A. van der Zee   +5 more
wiley   +2 more sources

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice [PDF]

JIMD Reports
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders.
Per Lundkvist, Karin Blom Malmberg, Linda Lindström, Andreas Kindmark   +3 more
doaj   +2 more sources

Letter to the Editor in Response to Gondrand Et al. “Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria” [PDF]

J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
Rachel S. Carling, Emily Whyte, Stuart J. Moat   +2 more
wiley   +2 more sources

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria [PDF]

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   +2 more sources

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria [PDF]

European Journal of Neurology, Volume 33, Issue 4, April 2026.
This infographic summarizes the study on the perceived role of digital tools in supporting information, education, and communication in phenylketonuria (PKU) care. Survey findings from patients, caregivers, and healthcare professionals highlight a preference for hybrid care pathways that integrate digital solutions with face‐to‐face consultations ...
Sara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan‐Gilroy, Tobias Hagedorn, Agata Bak, Suzanne L. Dickson, Eileen P. Treacy, Alvaro Hermida, Anita MacDonald, Eva Venegas, James O'Byrne, Maurizio Scarpa, Francjan Van Spronsen, Eric Lange, Tim Buckinx, Ahmad Monavari, Stephan vom Dahl, Leopoldo Trieste, Giuseppe Turchetti   +18 more
wiley   +2 more sources

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics [PDF]

Orphanet Journal of Rare Diseases
Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine.
Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp   +20 more
doaj   +2 more sources

Diet Therapy and Nutritional Management of Phenylketonuria [PDF]

, 2022
Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.

core   +2 more sources

Knowledge Summary 22: Reaching Child Brides [PDF]

, 2012
Child marriage affects 10 million girls under the age of 18 every year. The negative health and social impact of child marriage include higher rates of maternal and infant mortality, sexually transmitted infection, social separation, and domestic abuse
Partnership for Maternal, Newborn and Child Health
core   +4 more sources

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko (144194), Thiery, Joachim, Berthold Koletzko, Bruegel Mathias, Linda Kortz, Kiess Wieland, Beblo, Skadi, Kortz, Linda, Kortz Linda, Linda Kortz (144188), Wieland Kiess (102793), Uta Ceglarek (144203), Skadi Beblo (144186), Claudia Matthies (144191), Kiess, Wieland, Bruegel, Mathias, Mathias Bruegel (144197), Wieland Kiess, Beblo Skadi, Ulrike Mütze, Koletzko Berthold, Skadi Beblo, Ceglarek Uta, Ceglarek, Uta, Ulrike Mütze (144183), Joachim Thiery, Joachim Thiery (66414), Rohde, Carmen, Matthies, Claudia, Matthies Claudia, Rohde Carmen, Uta Ceglarek, Mütze, Ulrike, Koletzko, Berthold, Mathias Bruegel, Carmen Rohde, Carmen Rohde (144200), Thiery Joachim, Mütze Ulrike, Claudia Matthies   +39 more
core   +2 more sources