Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

Background: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical experience is needed to ensure that dietitians are pr...

Full description

Bibliographic Details
Main Authors: Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
PKU
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000653
id doaj-7da1310c6578481e9e90c62904657daa
record_format Article
collection DOAJ
language English
format Article
sources DOAJ
author Júlio César Rocha
Heather Bausell
Amaya Bélanger-Quintana
Laurie Bernstein
Hülya Gökmen-Özel
Alexandra Jung
Anita MacDonald
Fran Rohr
Esther van Dam
Margret Heddrich-Ellerbrok
spellingShingle Júlio César Rocha
Heather Bausell
Amaya Bélanger-Quintana
Laurie Bernstein
Hülya Gökmen-Özel
Alexandra Jung
Anita MacDonald
Fran Rohr
Esther van Dam
Margret Heddrich-Ellerbrok
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
Molecular Genetics and Metabolism Reports
Phenylketonuria
PKU
Phenylalanine
Pegvaliase
Nutrition
Dietitian
author_facet Júlio César Rocha
Heather Bausell
Amaya Bélanger-Quintana
Laurie Bernstein
Hülya Gökmen-Özel
Alexandra Jung
Anita MacDonald
Fran Rohr
Esther van Dam
Margret Heddrich-Ellerbrok
author_sort Júlio César Rocha
title Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
title_short Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
title_full Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
title_fullStr Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
title_full_unstemmed Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
title_sort development of a practical dietitian road map for the nutritional management of phenylketonuria (pku) patients on pegvaliase
publisher Elsevier
series Molecular Genetics and Metabolism Reports
issn 2214-4269
publishDate 2021-09-01
description Background: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical experience is needed to ensure that dietitians are prepared to provide optimal nutritional management and counselling of pegvaliase-treated patients. Methods: Via a face-to-face data-review meeting, followed by a virtual consolidation meeting, a group of expert dietitians and one paediatrician discussed and developed a series of recommendations on the nutritional evaluation and management of patients receiving pegvaliase. The consensus group consisted of 10 PKU experts: six dietitians and one paediatrician from Europe and three dietitians from the US. One European and three US dietitians had experience with pegvaliase-treated patients. Results: The consensus group recommended that a physician, dietitian and nurse are part of the pegvaliase treatment team. Additionally, a psychologist/counsellor should be included if available. Practical proposals for the nutritional evaluation of pegvaliase-treated patients at baseline, during the induction and titration phases and for long-term maintenance were developed. The consensus group suggested assessment of blood Phe at least monthly or every 2 weeks in the event of low blood Phe (i.e., blood Phe <30 μmol/L). It may be appropriate to increase blood Phe monitoring when adjusting protein intake and/or pegvaliase dose. It was recommended that natural protein intake is increased by 10–20 g increments if blood Phe concentrations decrease to <240 μmol/L in patients who are not meeting the dietary reference intake for natural protein of 0.8 g/kg. It was proposed that with pegvaliase treatment blood Phe levels could be maintained <240 μmol/L but more evidence on the safety of achieving physiological blood Phe levels is necessary before any recommendation on the lower blood Phe target can be given. Finally, both patients and dietitians should have access to educational resources to optimally support patients receiving pegvaliase. Conclusion: This practical road map aims to provide initial recommendations for dietitians monitoring patients with PKU prescribed pegvaliase. Given that practical experience with pegvaliase is still limited, nutritional recommendations will require regular updating once more evidence is available and clinical experience evolves.
topic Phenylketonuria
PKU
Phenylalanine
Pegvaliase
Nutrition
Dietitian
url http://www.sciencedirect.com/science/article/pii/S2214426921000653
work_keys_str_mv AT juliocesarrocha developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT heatherbausell developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT amayabelangerquintana developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT lauriebernstein developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT hulyagokmenozel developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT alexandrajung developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT anitamacdonald developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT franrohr developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT esthervandam developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
AT margretheddrichellerbrok developmentofapracticaldietitianroadmapforthenutritionalmanagementofphenylketonuriapkupatientsonpegvaliase
_version_ 1721426632163459072
spelling doaj-7da1310c6578481e9e90c62904657daa2021-05-26T04:26:52ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-09-0128100771Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliaseJúlio César Rocha0Heather Bausell1Amaya Bélanger-Quintana2Laurie Bernstein3Hülya Gökmen-Özel4Alexandra Jung5Anita MacDonald6Fran Rohr7Esther van Dam8Margret Heddrich-Ellerbrok9Nutrition &amp; Metabolism, NOVA Medical School, Faculty of Medical Sciences, University of Lisbon, Lisbon, Portugal; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Center for Health Technology and Services Research (CINTESIS), Porto, Portugal; Corresponding author at: Nutrition &amp; Metabolism, NOVA Medical School, Faculty of Medical Sciences, Nova University of Lisbon, Lisbon, Portugal.Division of Clinical Nutrition &amp; Genetics, Ann &amp; Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USAMetabolic Disease Unit, Hospital Ramon y Cajal, Madrid, SpainDepartment of Pediatrics Section of Clinical Genetics and Metabolism, Aurora, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, CO, USANutrition and Dietetics Department, Faculty of Health Sciences, Hacettepe University, Ankara, TurkeyCompetence Center for Rare Metabolic Diseases, Charité – University Hospital Berlin, Berlin, GermanyDepartment of Dietetics, Birmingham Women's and Children's Hospital, Birmingham, UKMet Ed, Boulder, CO, USADepartment of Dietetics, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The NetherlandsUniversity Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyBackground: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical experience is needed to ensure that dietitians are prepared to provide optimal nutritional management and counselling of pegvaliase-treated patients. Methods: Via a face-to-face data-review meeting, followed by a virtual consolidation meeting, a group of expert dietitians and one paediatrician discussed and developed a series of recommendations on the nutritional evaluation and management of patients receiving pegvaliase. The consensus group consisted of 10 PKU experts: six dietitians and one paediatrician from Europe and three dietitians from the US. One European and three US dietitians had experience with pegvaliase-treated patients. Results: The consensus group recommended that a physician, dietitian and nurse are part of the pegvaliase treatment team. Additionally, a psychologist/counsellor should be included if available. Practical proposals for the nutritional evaluation of pegvaliase-treated patients at baseline, during the induction and titration phases and for long-term maintenance were developed. The consensus group suggested assessment of blood Phe at least monthly or every 2 weeks in the event of low blood Phe (i.e., blood Phe <30 μmol/L). It may be appropriate to increase blood Phe monitoring when adjusting protein intake and/or pegvaliase dose. It was recommended that natural protein intake is increased by 10–20 g increments if blood Phe concentrations decrease to <240 μmol/L in patients who are not meeting the dietary reference intake for natural protein of 0.8 g/kg. It was proposed that with pegvaliase treatment blood Phe levels could be maintained <240 μmol/L but more evidence on the safety of achieving physiological blood Phe levels is necessary before any recommendation on the lower blood Phe target can be given. Finally, both patients and dietitians should have access to educational resources to optimally support patients receiving pegvaliase. Conclusion: This practical road map aims to provide initial recommendations for dietitians monitoring patients with PKU prescribed pegvaliase. Given that practical experience with pegvaliase is still limited, nutritional recommendations will require regular updating once more evidence is available and clinical experience evolves.http://www.sciencedirect.com/science/article/pii/S2214426921000653PhenylketonuriaPKUPhenylalaninePegvaliaseNutritionDietitian