Glycogen storage disease type Ia: current management options, burden and unmet needs
Abstract: Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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Nutrients. - 13, 11 (2021) , 3828, ISSN: 2072-6643
- Ereignis
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Veröffentlichung
- (wo)
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Freiburg
- (wer)
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Universität
- (wann)
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2021
- Urheber
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Derks, Terry G. J.
Rodriguez-Buritica, David F.
Ahmad, Ayesha
Boer, Foekje de
Couce Pico, Maria Luz
Grünert, Sarah
Labrune, Philippe
López Maldonado, Nerea
Fischinger Moura de Souza, Carolina
Riba-Wolman, Rebecca
Rossi, Alessandro
Saavedra, Heather
Gupta, Rupal Naik
Valayannopoulos, Vassili
Mitchell, John
- DOI
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10.3390/nu13113828
- URN
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urn:nbn:de:bsz:25-freidok-2226678
- Rechteinformation
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Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:26 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Derks, Terry G. J.
- Rodriguez-Buritica, David F.
- Ahmad, Ayesha
- Boer, Foekje de
- Couce Pico, Maria Luz
- Grünert, Sarah
- Labrune, Philippe
- López Maldonado, Nerea
- Fischinger Moura de Souza, Carolina
- Riba-Wolman, Rebecca
- Rossi, Alessandro
- Saavedra, Heather
- Gupta, Rupal Naik
- Valayannopoulos, Vassili
- Mitchell, John
- Universität
Entstanden
- 2021
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