Glucokinase mutation–a rare cause of recurrent hypoglycemia in adults: a case report and literature review

BACKGROUND: Hypoglycemia occurs frequently in patients both in the inpatient and outpatient settings. While most hypoglycemia unrelated to diabetes treatment results from excessive endogenous insulin action, rare cases involve functional and congenital mutations in glycolytic enzymes of insulin regulation. CASE: A 21-year-old obese woman presented to the emergency department with complaints of repeated episodes of lethargy, syncope, dizziness, and sweating. She was referred from an outside facility on suspicion of insulinoma, with severe hypoglycemia unresponsive to repeated dextrose infusions. Her plasma glucose was 20 mg/dl at presentation, 44 mg/dl on arrival at our facility, and remained low in spite of multiple dextrose infusions. The patient had been treated for persistent hyperinsulinemic hypoglycemia of infancy at our neonatal facility and 4 years ago was diagnosed as having an activating glucokinase (GCK) mutation. She was then treated with octreotide and diazoxide with improvement in symptoms and blood glucose levels. CONCLUSION: Improved diagnostication and management of uncommon genetic mutations as typified in this patient with an activating mutation of the GCK gene has expanded the spectrum of disease in adult medicine. This calls for improved patient information dissemination across different levels and aspects of the health care delivery system to ensure cost-effective and timely health care.