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Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

Authors: Laurie Bernstein; Joyanna Hansen; Christian Kogelmann; Margret Ellerbrok; Maria Giżewska; Sommer Gaughan; Julio Cesar Rocha; +2 Authors

Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

Abstract

Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7– 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; 2Met Ed Co, Boulder, CO, USA; 3Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA; 4University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 5Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland; 6Inherited Metabolic Diseases Clinic, Children’s Hospital Colorado, Aurora, CO, USA; 7Nutrition and Metabolism, NOVA Medical School | Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisboa, 1169-056, Portugal; 8CINTESIS - Center for Health Technology and Services Research, Porto, Portugal; 9Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, 1169-045, Portugal; 10Hospital Universitario Ramon y Cajal, Madrid, SpainCorrespondence: Fran Rohr Email fran.rohr@met-ed.netAbstract: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders, and historically has required affected individuals to follow a severely protein-restricted diet with medical food for life. A novel enzyme substitution therapy, pegvaliase, allows many adults with PKU on therapy to have a reduction in blood phenylalanine (Phe) while on an unrestricted diet. However, there is limited information on optimal nutrition management of individuals with PKU on pegvaliase therapy. This manuscript summarizes a virtual European meeting focused on nutrition management of individuals on pegvaliase therapy, including three case studies and a patient perspective that together provide clinical insights into the real-world management of individuals with PKU on pegvaliase.Keywords: PKU, phenylketonuria, pegvaliase, medical nutrition therapy

Country
Poland
Keywords

RC620-627, pku, Nutrition. Foods and food supply, phenylketonuria, Nutrition and Dietary Supplements, TX341-641, pegvaliase, Nutritional diseases. Deficiency diseases, medical nutrition therapy

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    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
gold