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.
glycogen storage disease von Gierke disease hypoglycemia lactic acidosis emergency medicine.
Primary Language | English |
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Subjects | Clinical Sciences |
Journal Section | Case Report |
Authors | |
Publication Date | March 8, 2022 |
Submission Date | November 17, 2021 |
Published in Issue | Year 2022 |