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

Daisuke Katayama,Kimitoshi Nakamura,Shirou Matsumoto,Hiroshi Mitsubuchi,Hiroo Baba,Jun Kido,Takashige Kuwabara

doi:10.1186/s13256-020-02658-5

Abstract

BackgroundGlycogen 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 presentationThe 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.ConclusionThis case suggests SGLT2 inhibitor as a promising candidate for treating glucose intolerance in GSD type Ia without worsening of hypoglycemia.

Highlights

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
Several recent clinical trials indicated that sodium-glucose co-transporter 2 (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 observed In GSD type Ia and a previous case report indicated that SGLT2 inhibitor improved diabetes mellitus in GSD type Ia [2]

Summary

Background

Katayama et al J Med Case Reports (2021) 15:75 present glucose intolerance and dynamic plasma glucose levels, similar to those in type 2 diabetes, and parallel treatment of these contrasting conditions remains a challenge. Case presentation The patient was a 45-year-old Asian (Japanese) woman, who presented polycystic ovarian syndrome, hypertension, hyper-urinary acid, bladder stone, urinary stone, progressive renal dysfunction, and lipid abnormality When she was 3 years old, she visited our hospital because of hypoglycemia, liver enzyme elevation, and hepatomegaly. To avoid severe hypoglycemia and improve liver function, she was experimentally treated with luseogliflozin hydrate an SGLT2 inhibitor, at a dose of 2.5 mg daily, after obtaining informed consent After this intervention, she decreased her cornstarch intake, and her dumping syndrome-like symptoms disappeared completely. She decreased her cornstarch intake, and her dumping syndrome-like symptoms disappeared completely Her body weight (BMI 21) and insulin resistance both decreased remarkably (HOMA-IR 4.49; Fig. 3)

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Conclusion