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The Early History of PKU [PDF]

International Journal of Neonatal Screening, 2020
The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason ...
Louis I. Woolf, John Adams
doaj   +4 more sources

PKU dietary handbook to accompany PKU guidelines [PDF]

Orphanet Journal of Rare Diseases, 2020
Abstract Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body In 2017 the first European PKU Guidelines were published.
MacDonald A., Van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Burlina A., Campistol J., Coskun T., Feillet F., Gizewska M., Huijbregts S. C., Leuzzi V., Maillot F., Muntau A. C., Rocha J. C., Rocha J. C., Romani C., Trefz F., Van Spronsen F. J.   +18 more
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The Adult Phenylketonuria (PKU) Gut Microbiome

Microorganisms, 2021
Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition.
Viviana J. Mancilla, Allison E. Mann, Yan Zhang, Michael S. Allen   +3 more
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Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Orphanet Journal of Rare Diseases, 2021
Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo   +15 more
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Our lives with PKU: German patient voices - “Nothing about us without us” [PDF]

Molecular Genetics and Metabolism Reports
Objectives: Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited.
Karin Lange, Jens Böhmer, Yvonne Deich, Daniel Dickneite, Pascale Fuchs, Verena Naunheim, Angelika Scholz, Christian Heimbold   +7 more
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Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).

PLoS ONE, 2019
IntroductionIn phenylketonuria (PKU), a gene mutation in the phenylalanine metabolic pathway causes accumulation of phenylalanine (Phe) in blood and brain.
Vibeke M Bruinenberg, Danique van Vliet, Els van der Goot, Danielle S Counotte, Mirjam Kuhn, Francjan J van Spronsen, Eddy A van der Zee   +6 more
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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires [PDF]

Orphanet Journal of Rare Diseases, 2015
BackgroundThe aim of our study was to develop and validate the first set of PKU-specific Health-related Quality of Life (HRQoL) questionnaires that: 1) were developed for patients with PKU and their parents, 2) cover the physical, emotional, and social ...
Antoine Regnault, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, K Benmedjahed, Annet M. Bosch   +6 more
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Multiclinic Observations on the Simplified Diet in PKU [PDF]

Journal of Nutrition and Metabolism, 2017
Phenylketonuria is an inborn error of metabolism that historically has been treated with a strict phenylalanine-restricted diet where all foods are weighed and measured.
Laurie Bernstein, Casey Burns, Melissa Sailer-Hammons, Angela Kurtz, Frances Rohr   +4 more
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Phenylketonuria (PKU): A problem solved?

Molecular Genetics and Metabolism Reports, 2016
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities.
Uta Lichter-Konecki, Christine S. Brown
openaire   +4 more sources

Can untreated PKU patients escape from intellectual disability? A systematic review

Orphanet Journal of Rare Diseases, 2018
BackgroundPhenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment.
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Mirosław Bik-Multanowski, Nenad Blau, Fatma D Bulut, Kari Casas, Bożena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Giżewska, Gwendolyn Gramer, Jozef Hertecant, Carla E. M. Hollak, Jens V Jørgensen, Daniela Karall, Yuval E. Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljković, F. K. Trefz, Natalia Uşurelu, Callum Wilson, Clara D.M. van Karnebeek, William Hanley, Francjan J. van Spronsen   +34 more
openalex   +3 more sources