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

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 t...

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Bibliographic Details
Main Authors: Garbade, Sven (Author) , Ederer, Viviane (Author) , Burgard, Peter (Author) , Wendel, Udo (Author) , Spiekerkötter, Ute (Author) , Haas, Dorothea (Author) , Grünert, Sarah (Author)
Format: Article (Journal)
Language:English
Published: 03 September 2021
In: Orphanet journal of rare diseases
Year: 2021, Volume: 16, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-021-02006-w
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-021-02006-w
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Author Notes:Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sarah C. Grünert
Description
Summary: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.
Item Description:Gesehen am 21.10.2021
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-021-02006-w

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