Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
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...
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MDPI AG
2021
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oai:doaj.org-article:49373e0a313c4a1bbb2b3940a73fdda62021-11-25T18:34:27ZGlycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs10.3390/nu131138282072-6643https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda62021-10-01T00:00:00Zhttps://www.mdpi.com/2072-6643/13/11/3828https://doaj.org/toc/2072-6643Glycogen 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.Terry G. J. DerksDavid F. Rodriguez-BuriticaAyesha AhmadFoekje de BoerMaría L. CouceSarah C. GrünertPhilippe LabruneNerea López MaldonadoCarolina Fischinger Moura de SouzaRebecca Riba-WolmanAlessandro RossiHeather SaavedraRupal Naik GuptaVassili ValayannopoulosJohn MitchellMDPI AGarticleglycogen storage disease type Iadietary treatmentuncooked cornstarchburden of diseaseunmet needlong-term complicationsNutrition. Foods and food supplyTX341-641ENNutrients, Vol 13, Iss 3828, p 3828 (2021) |
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DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
glycogen storage disease type Ia dietary treatment uncooked cornstarch burden of disease unmet need long-term complications Nutrition. Foods and food supply TX341-641 |
| spellingShingle |
glycogen storage disease type Ia dietary treatment uncooked cornstarch burden of disease unmet need long-term complications Nutrition. Foods and food supply TX341-641 Terry G. J. Derks David F. Rodriguez-Buritica Ayesha Ahmad Foekje de Boer María L. Couce Sarah C. Grünert Philippe Labrune Nerea López Maldonado Carolina Fischinger Moura de Souza Rebecca Riba-Wolman Alessandro Rossi Heather Saavedra Rupal Naik Gupta Vassili Valayannopoulos John Mitchell Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| description |
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. |
| format |
article |
| author |
Terry G. J. Derks David F. Rodriguez-Buritica Ayesha Ahmad Foekje de Boer María L. Couce Sarah C. Grünert Philippe Labrune Nerea López Maldonado Carolina Fischinger Moura de Souza Rebecca Riba-Wolman Alessandro Rossi Heather Saavedra Rupal Naik Gupta Vassili Valayannopoulos John Mitchell |
| author_facet |
Terry G. J. Derks David F. Rodriguez-Buritica Ayesha Ahmad Foekje de Boer María L. Couce Sarah C. Grünert Philippe Labrune Nerea López Maldonado Carolina Fischinger Moura de Souza Rebecca Riba-Wolman Alessandro Rossi Heather Saavedra Rupal Naik Gupta Vassili Valayannopoulos John Mitchell |
| author_sort |
Terry G. J. Derks |
| title |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_short |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_full |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_fullStr |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_full_unstemmed |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_sort |
glycogen storage disease type ia: current management options, burden and unmet needs |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6 |
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