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.

Glycogen storage disease type Ia: Current management options, burden and unmet needs / Derks, T. G. J.; Rodriguez-Buritica, D. F.; Ahmad, A.; de Boer, F.; Couce, M. L.; Grunert, S. C.; Labrune, P.; Lopez Maldonado, N.; Fischinger Moura de Souza, C.; Riba-Wolman, R.; Rossi, A.; Saavedra, H.; Gupta, R. N.; Valayannopoulos, V.; Mitchell, J.. - In: NUTRIENTS. - ISSN 2072-6643. - 13:11(2021), p. 3828. [10.3390/nu13113828]

Glycogen storage disease type Ia: Current management options, burden and unmet needs

Rossi A.;
2021

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.
2021
Glycogen storage disease type Ia: Current management options, burden and unmet needs / Derks, T. G. J.; Rodriguez-Buritica, D. F.; Ahmad, A.; de Boer, F.; Couce, M. L.; Grunert, S. C.; Labrune, P.; Lopez Maldonado, N.; Fischinger Moura de Souza, C.; Riba-Wolman, R.; Rossi, A.; Saavedra, H.; Gupta, R. N.; Valayannopoulos, V.; Mitchell, J.. - In: NUTRIENTS. - ISSN 2072-6643. - 13:11(2021), p. 3828. [10.3390/nu13113828]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/876032
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 24
  • ???jsp.display-item.citation.isi??? 26
social impact