Abstract
Abstract
Background
Glycogen storage disease (GSD) type Ia is a glycogenesis disorder with long-term complications such as hepatomegaly and renal dysfunction and is caused by congenital loss of glucose-6-phosphatase (G6Pase) expression. G6Pase is essential for the final step of gluconeogenesis and glycogenolysis, and its deficiency causes clinical hypoglycemia in the fasting state during infancy. Contrastingly, patients also show blood glucose trends and glucose intolerance similar to those in type II diabetes. Owing to the contrasting presentation of hypoglycemia with glucose intolerance, glucose control in patients remains a challenge, requiring management of both fasting hypoglycemia and post-prandial hyperglycemia.
Case presentation
The patient was a 45-year old Asian (Japanese) woman who showed disease onset at 3 years of age, when hypoglycemia and hepatomegaly were observed, and GDS type Ia was diagnosed by the lack of G6Pase activity. Over the past 45 years, she presented hyperglycemia and dumping syndrome like symptoms (a feeling of fullness, even after eating just a small amount, abdominal cramping, nausea, sweating, flushing, or light-headedness and rapid heartbeat) at 2 hours after food intake. Her liver and kidney dysfunction also worsened over time. Treatment with exercise combined with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor alleviated her glucose intolerance and dumping syndrome-like symptoms, without increasing hypoglycemic events.
Conclusion
This case suggests SGLT2 inhibitor as a promising candidate for treating glucose intolerance in GSD type Ia without worsening of hypoglycemia.
Funder
Rare and Intractable Diseases, Health and Labor Sciences Research
Pediatric Research from the Ministry of Health, Labour and Welfare
Grant-in-Aid from Japan Agency for Medical Research and Development
Scientific Re- search from the Ministry of Education, Culture, Sports, Science, and Technology
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Reference11 articles.
1. Shieh JJ, Pan CJ, Mansfield BC, Chou JY. A glucose-6-phosphate hydrase. Widely expressed outside the liver. Can explain age dependent resolution of hypoglycemia in glycogen storage disease type Ia. J Biol Chem. 2003;278:47098–103.
2. Cohn A, Ohri A. Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report. J Med Case Rep. 2017;11(1):319.
3. Powell RC, Wentworth SM, Brandt IK. Endogenous glucose production in type I glycogen storage disease. Metabolism. 1981;30:443–50.
4. Tsalikian E, Simmons P, Gerich JE, Howard C, Haymond MW. Glucose production and utilization in children with glycogen storage disease type 1. Am J Physiol. 1984;247:E513–9.
5. Collins JE, Bartlett K, Leonard JV, Aynsley-Green A. Glucose production rates in type 1 glycogen storage disease. J Inherit Metab Dis. 1990;13(2):195–206.
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献