A RARE CASE OF HYPERLACTATEMIA IN THE EMERGENCY DEPARTMENT

Abstract

Introduction: Glycogen storage disease type 1a is a rare autosomal recessive syndrome characterized by hypoglycemia, hyperuricemia, hyperlipidemia, hepatomegaly, among other features. Case report: A 31-year-old woman genetically diagnosed with this disease in childhood was admitted to the Emergency Department with tachypnea. Her lactate was 179 mg/dL, and her arterial bicarbonate was 2 mmol/L, with a pH of 7.0 and pCO2 of 2.2 mmHg. She received IV glucose, isotonic bicarbonate, and antibiotics. Her urine culture was positive for Escherichia coli. She had a complete recovery from acidosis in 12 hours and was discharged three days later. Conclusion: This case highlights a rare differential of lactic acidosis that can, sometimes, be present in the emergency department.

Keywords

• glycogen storage disease
• von Gierke disease
• hypoglycemia
• lactic acidosis
• emergency medicine.

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