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Impact of glycogen storage disease type I on adult daily life: a survey

BACKGROUND: Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates,...

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Autores principales: Garbade, Sven F., Ederer, Viviane, Burgard, Peter, Wendel, Udo, Spiekerkoetter, Ute, Haas, Dorothea, Grünert, Sarah C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414849/
https://www.ncbi.nlm.nih.gov/pubmed/34479584
http://dx.doi.org/10.1186/s13023-021-02006-w
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author Garbade, Sven F.
Ederer, Viviane
Burgard, Peter
Wendel, Udo
Spiekerkoetter, Ute
Haas, Dorothea
Grünert, Sarah C.
author_facet Garbade, Sven F.
Ederer, Viviane
Burgard, Peter
Wendel, Udo
Spiekerkoetter, Ute
Haas, Dorothea
Grünert, Sarah C.
author_sort Garbade, Sven F.
collection PubMed
description BACKGROUND: Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood. Little research has been performed on the impact of GSD I on daily life, especially in adult patients. RESULTS: In this multi-centre study we assessed the impact of GSD I on adult daily life in 34 GSD I patients (27 GSD Ia, 7 GSD Ib) between 17 and 54 years (median 26 years) using a self-designed questionnaire that specifically focused on different aspects of daily life, such as job situation, social life, sports, travelling, composition of the household, night-time and day-time dietary management and disease monitoring as well as the patient’s attitude towards the disease. At the time of investigation, the majority of patients either attended school or university or were employed, while 3 patients (9%) were out of work. Most patients ranked GSD I as a disease with moderate severity and disease burden. Dietary treatment was considered challenging by many, but the vast majority of patients considered life with GSD I as well-manageable. CONCLUSIONS: Although the management of GSD I poses a significant burden on daily life, most patients live an independent adult life, have a positive attitude towards their disease and seem to cope well with their situation. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02006-w.
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spelling pubmed-84148492021-09-09 Impact of glycogen storage disease type I on adult daily life: a survey Garbade, Sven F. Ederer, Viviane Burgard, Peter Wendel, Udo Spiekerkoetter, Ute Haas, Dorothea Grünert, Sarah C. Orphanet J Rare Dis Research BACKGROUND: Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood. Little research has been performed on the impact of GSD I on daily life, especially in adult patients. RESULTS: In this multi-centre study we assessed the impact of GSD I on adult daily life in 34 GSD I patients (27 GSD Ia, 7 GSD Ib) between 17 and 54 years (median 26 years) using a self-designed questionnaire that specifically focused on different aspects of daily life, such as job situation, social life, sports, travelling, composition of the household, night-time and day-time dietary management and disease monitoring as well as the patient’s attitude towards the disease. At the time of investigation, the majority of patients either attended school or university or were employed, while 3 patients (9%) were out of work. Most patients ranked GSD I as a disease with moderate severity and disease burden. Dietary treatment was considered challenging by many, but the vast majority of patients considered life with GSD I as well-manageable. CONCLUSIONS: Although the management of GSD I poses a significant burden on daily life, most patients live an independent adult life, have a positive attitude towards their disease and seem to cope well with their situation. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02006-w. BioMed Central 2021-09-03 /pmc/articles/PMC8414849/ /pubmed/34479584 http://dx.doi.org/10.1186/s13023-021-02006-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Garbade, Sven F.
Ederer, Viviane
Burgard, Peter
Wendel, Udo
Spiekerkoetter, Ute
Haas, Dorothea
Grünert, Sarah C.
Impact of glycogen storage disease type I on adult daily life: a survey
title Impact of glycogen storage disease type I on adult daily life: a survey
title_full Impact of glycogen storage disease type I on adult daily life: a survey
title_fullStr Impact of glycogen storage disease type I on adult daily life: a survey
title_full_unstemmed Impact of glycogen storage disease type I on adult daily life: a survey
title_short Impact of glycogen storage disease type I on adult daily life: a survey
title_sort impact of glycogen storage disease type i on adult daily life: a survey
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414849/
https://www.ncbi.nlm.nih.gov/pubmed/34479584
http://dx.doi.org/10.1186/s13023-021-02006-w
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