Glycogen storage disease type Ia: Current management options, burden and unmet needs
| Autor: | A. Rossi, Heather Saavedra, Philippe Labrune, Vassili Valayannopoulos, Ayesha Ahmad, Nerea López Maldonado, Terry G J Derks, Sarah C. Grünert, David Rodriguez-Buritica, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, John J. Mitchell, Rupal Naik Gupta, Foekje de Boer, María L. Couce |
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| Přispěvatelé: | 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. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Liver/metabolism
Quality of life medicine.medical_specialty Review Disease Glycemic Control Carbohydrate metabolism Glycogen Storage Disease Type I Kidney chemistry.chemical_compound Cost of Illness Glycogen storage disease type Ia Long-term complication Medicine Glucose homeostasis Humans TX341-641 Intensive care medicine Uncooked cornstarch Health Services Needs and Demand Nutrition and Dietetics Glycogen business.industry Nutrition. Foods and food supply Burden of disease Disease Management Starch long-term complications Hypoglycemia/etiology Hypoglycemia Dietary treatment Cost of Illne Kidney/metabolism chemistry Liver Metabolic control analysis Anxiety Glycemic Control/methods Glycogen Storage Disease Type I/complications medicine.symptom business Psychosocial Starch/administration & dosage Food Science Unmet need Human |
| Zdroj: | Nutrients, Vol 13, Iss 3828, p 3828 (2021) Nutrients |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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