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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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Bibliographische Detailangaben
Hauptverfasser: Garbade, Sven (VerfasserIn) , Ederer, Viviane (VerfasserIn) , Burgard, Peter (VerfasserIn) , Wendel, Udo (VerfasserIn) , Spiekerkötter, Ute (VerfasserIn) , Haas, Dorothea (VerfasserIn) , Grünert, Sarah (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 03 September 2021
In: Orphanet journal of rare diseases
Year: 2021, Jahrgang: 16, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-021-02006-w
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-021-02006-w
Volltext
Verfasserangaben:Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sarah C. Grünert
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 21.10.2021
Beschreibung:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-021-02006-w

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