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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,...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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. |
format | Online Article Text |
id | pubmed-8414849 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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