Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Abstract

BackgroundGlycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment.Case presentationWe describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient’s blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor.ConclusionWe report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.

SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report

“…Several recent clinical trials indicated that SGLT2 inhibition is an effective strategy for diabetes mellitus and concluded that it (1) facilitates reduction of body weight and visceral fat, (2) prevents progressive kidney disease, and (3) improves liver function in non-alcoholic steatohepatitis (NASH) occurring with diabetes mellitus. All the complications mentioned above are also observed In GSD type Ia and a previous case report indicated that SGLT2 inhibitor improved diabetes mellitus in GSD type Ia [2].…”

A glycogen storage disease type 1a patient with type 2 diabetes

“…Cases of GSD1a combined with diabetes are reported relatively rarely. In fact, there have only been five reported cases of GSD1a with diabetes mellitus [ 14 , 15 ], including one middle-aged adult case, two young adult cases, and two pediatric cases. No sex difference has been reported for the onset.…”

“…The Annual Symposium of the Society for the Study of Inborn Errors of Metabolism has reported four cases of GSD1a patients with DM and pointed out that glycemic control can be achieved through the reduction of weight through strict diet control [ 15 ]. In addition, a 34-year-old South Asian obese female patient with GSD1a and DM demonstrated stable glycemia control after diet control and exercise for weight loss and administration of oral canagliflozin and acarbose [ 14 ]. In our case, the patient was an underweight adult female (BMI = 16.64 kg/m 2 ) who had no obvious insulin resistance.…”

Successful treatment of diabetes associated with glycogen storage disease type Ia

“…Pharmacological treatments have included insulin, sodium-glucose cotransporter-2 inhibitors, and glucosidase inhibitors. [6][7][8][9] In this case, the woman was not overweight and so she continued a low glycaemic index diet with carefully titrated uncooked corn starch at night to prevent hypoglycaemia. Low-dose insulin was used to control postprandial hyperglycaemia without hypoglycaemia.…”

“…Previous reports of GSD with diabetes have indicated that weight loss may be beneficial. Pharmacological treatments have included insulin, sodium–glucose cotransporter‐2 inhibitors, and glucosidase inhibitors 6–9 . In this case, the woman was not overweight and so she continued a low glycaemic index diet with carefully titrated uncooked corn starch at night to prevent hypoglycaemia.…”