A RARE CASE OF HYPERLACTATEMIA IN THE EMERGENCY DEPARTMENT

Yıl 2022, Cilt: 13 Sayı: 1, 29 - 30, 08.03.2022

Matheo Stumpf , Ademar Simões Julio Alencar

https://doi.org/10.33706/jemcr.1003145

Öz

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.

Anahtar Kelimeler

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

Kaynakça

• 1. Kraut JA, Madias NE. Lactic acidosis. N Engl J Med. 2014; 371(24):2309-19.
• 2. Oster Y, Wexler ID, Heyman SN, Fried E. Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder. Case Rep Med. 2016; 2016:4362743.
• 3. Kishnani PS, Austin SL, Abdenur JE et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014; 16(11):e1.
• 4. Shin YS. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006; 13(2):115-20.
• 5. Cenacchi G, Papa V, Costa R et al. Update on polyglucosan storage diseases. Virchows Arch. 2019; 475(6):671-686.
• 6. Rake JP, Visser G, Labrune P et al. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002; 161 Suppl 1:S112-9.