Key European guidelines for the diagnosis and management of patients with phenylketonuria
Francjan J. van Spronsen,Annemiek M. J. van Wegberg,K. Ahring,Amaya Belanger-Quintana,Nenad Blau,Annet M. Bosch,Alberto Burlina,Jaime Campistol,François Feillet,Maria Gizewska,Stephan C. J. Huijbregts,Shauna Kearney,Vincenzo Leuzzi,François Maillot,Ania C. Muntau,F. K. Trefz,Margreet van Rijn,John H. Walter,A. MacDonald +18 more
TLDR
Ten recommendations formulated to optimise phenylketonuria (PKU) care are described, from the 70 recommendations formulated, that are described as having the highest priority.About:
This article is published in The Lancet Diabetes & Endocrinology.The article was published on 2017-09-01 and is currently open access. It has received 257 citations till now.read more
Citations
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The complete European guidelines on phenylketonuria: diagnosis and treatment
A.M.J. van Wegberg,Anita MacDonald,K. Ahring,Amaya Belanger-Quintana,Nenad Blau,Annet M. Bosch,Alessandro P. Burlina,Jaime Campistol,François Feillet,Maria Gizewska,Stephan C. J. Huijbregts,Shauna Kearney,Vincenzo Leuzzi,François Maillot,Ania C. Muntau,M. van Rijn,Friedrich K. Trefz,John H. Walter,F. J. van Spronsen +18 more
TL;DR: Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.
Journal ArticleDOI
Maternal Phenylketonuria and Hyperphenylalaninemia: An International Survey of the Outcome of Untreated and Treated Pregnancies
Roger R. Lenke,Harvey L. Levy +1 more
TL;DR: It is not clear from this review whether dietary treatment begun after conception is helpful, but treatment begun before conception should be evaluated.
Journal ArticleDOI
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert,Yair Anikster,Amaya Belanger-Quintana,Alberto Burlina,Barbara K. Burton,Carla Carducci,Ana Chiesa,John Christodoulou,Maja Đorđević,Lourdes R. Desviat,Aviva Eliyahu,Roeland A F Evers,Lena Fajkusova,François Feillet,Pedro E. Bonfim-Freitas,Maria Gizewska,Polina Gundorova,Daniela Karall,Katya Kneller,Sergey I. Kutsev,Vincenzo Leuzzi,Harvey L. Levy,Uta Lichter-Konecki,Ania C. Muntau,Farès Namour,Mariusz Ołtarzewski,Andrea Paras,Belén Pérez,Emil Polak,Alexander V. Polyakov,Francesco Porta,Marianne Rohrbach,Sabine Scholl-Bürgi,Norma Specola,Maja Stojiljkovic,Nan Shen,Luiz Carlos Santana da Silva,Anastasia Skouma,Francjan J. van Spronsen,Vera Stoppioni,Beat Thöny,Friedrich K. Trefz,Jerry Vockley,Youngguo Yu,Johannes Zschocke,Georg F. Hoffmann,Sven F. Garbade,Nenad Blau,Nenad Blau +48 more
TL;DR: This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome, and suggests a gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PK U in the southwest and mild hyperphenylalaninemia in the south.
Journal ArticleDOI
Let thy food be thy medicine….when possible.
TL;DR: This review discusses the recent developments in the pharma‐nutrition interface and shows some relevant mechanisms, including receptors and other targets, and examples from clinical practice, which illustrate the potential of targeted combinations of medicines with nutrition and other life‐style interventions, to increase treatment efficacy and (or) reduce adverse effects.
Journal ArticleDOI
Living with Phenylketonuria: Lessons from the PKU community.
TL;DR: The practical, social and psychological issues of living with phenylketonuria (PKU) are reported from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.
References
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Effectiveness of Self-Management Training in Type 2 Diabetes: A systematic review of randomized controlled trials
TL;DR: Evidence supports the effectiveness of self-management training in type 2 diabetes, particularly in the short term, and further research is needed to assess the effectiveness on sustained glycemic control, cardiovascular disease risk factors, and ultimately, microvascular and cardiovascular disease and quality of life.
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Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.
TL;DR: It is hypothesized that the resultant modest elevation in the ratio of Phe to Tyr in the blood, which results in slightly less Tyr reaching the brain, uniquely affects the cognitive functions dependent on prefrontal cortex because of the special sensitivity of prefrontally projecting dopamine neurons to small decreases in Tyr.
Journal ArticleDOI
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.
Roger R. Lenke,Harvey L. Levy +1 more
TL;DR: The objective was to determine the effect of maternal PKU and hyperphenylalaninemia on the offspring of suc...
Journal ArticleDOI
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle,Nathalie Boddaert,Alberto Burlina,Anupam Chakrapani,Marjorie Dixon,Martina Huemer,Daniela Karall,Diego Martinelli,Pablo Sanjurjo Crespo,René Santer,Aude Servais,Vassili Valayannopoulos,Martin Lindner,Vicente Rubio,Carlo Dionisi-Vici +14 more
TL;DR: These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Journal ArticleDOI
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Jerry Vockley,Hans C. Andersson,Kevin M. Antshel,Nancy Braverman,Barbara K. Burton,Dianne M. Frazier,John J. Mitchell,Wendy E. Smith,Barry H. Thompson,Susan A. Berry +9 more
TL;DR: Treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenyalanine in the range of 120–360 µmol/l, and any interventions, including medications, or combination of therapies that help to achieve that goal in an individual, without other negative consequences, should be considered appropriate therapy.
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The complete European guidelines on phenylketonuria: diagnosis and treatment
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