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 |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Case Report |
| Authors | |
| Submission Date | November 17, 2021 |
| Publication Date | March 8, 2022 |
| DOI | https://doi.org/10.33706/jemcr.1003145 |
| IZ | https://izlik.org/JA52ME56KG |
| Published in Issue | Year 2022 Volume: 13 Issue: 1 |