Requirements for a minimum standard of care for phenylketonuria: the patients' perspective

Orphanet Journal of Rare Diseases
Tobias S HagedornRosalia Pasqual Saludes

Abstract

Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporadically. In this article, the first-ever pan- European patient/carer perspective on optimal PKU care, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposes recommendations for a minimum standard of care for PKU, to underpin the development of new pan-European guideline for the management of PKU. New standards of best practice should guarantee equal access to screening, treatment and monitoring throughout Europe. Screening protocols and interpretation of screening results should be standardised. Experienced Centres of Expertise are required, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU. Women of childbearing age require especially intensive management, due to the risk of severe risks to the foetus confe...Continue Reading

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Citations

Mar 26, 2016·Molecular Genetics and Metabolism Reports·Christine S Brown, Uta Lichter-Konecki
Dec 24, 2015·Orphanet Journal of Rare Diseases·Maria João PenaJúlio César Rocha
May 31, 2015·Orphanet Journal of Rare Diseases·Mojca Zerjav TansekTadej Battelino
Apr 28, 2016·European Journal of Clinical Nutrition·M J PenaJ C Rocha
Aug 9, 2016·Orphanet Journal of Rare Diseases·Mirjana Kocova, Violeta Anastasovska
Nov 22, 2016·Biomédica : revista del Instituto Nacional de Salud·Nancy GélvezMarta L Tamayo
May 30, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Cátia SousaJúlio César Rocha
Oct 14, 2017·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen
Oct 13, 2018·International Journal of Environmental Research and Public Health·Monica MazzucatoPaola Facchin
Sep 1, 2018·Orphanet Journal of Rare Diseases·Denise Leonne HofmanLouise Dye
Jan 8, 2021·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen
Nov 3, 2020·Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association·George A BurdockQing-Shan Li

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