Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

2017 ◽  
Vol 18 (5) ◽  
pp. 327-331 ◽  
Author(s):  
M Dambska ◽  
EB Labrador ◽  
CL Kuo ◽  
DA Weinstein
Keyword(s):  
Metabolic Control ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

scholarly journals Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Nutrients ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 3828
Author(s):  
Terry G. J. Derks ◽  
David F. Rodriguez-Buritica ◽  
Ayesha Ahmad ◽  
Foekje de Boer ◽  
María L. Couce ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Glycogen Storage Disease ◽  
Psychosocial Development ◽  
Storage Disease ◽  
Dietary Treatment ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

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.

scholarly journals Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

2017 ◽  
Vol 40 (5) ◽  
pp. 695-702 ◽  
Author(s):  
Fabian Peeks ◽  
Thomas A. H. Steunenberg ◽  
Foekje de Boer ◽  
M. Estela Rubio-Gozalbo ◽  
Monique Williams ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Added Value ◽  
Type Ia

scholarly journals Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

2019 ◽  
Vol 13 ◽  
pp. 265-273 ◽  
Author(s):  
Hye-Ri Kang ◽  
Lauren Waskowicz ◽  
Andrea M. Seifts ◽  
Dustin J. Landau ◽  
Sarah P. Young ◽  
...  
Keyword(s):  
Genome Editing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Aav Vector ◽  
Type Ia

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

2004 ◽  
Vol 83 (3) ◽  
pp. 276-279 ◽  
Author(s):  
Celia J. Angaroni ◽  
Raquel Dodelson de Kremer ◽  
Carlos E. Argaraña ◽  
Ana E. Paschini-Capra ◽  
Alicia N. Giner-Ayala ◽  
...  
Keyword(s):  
Protein Stability ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia
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