SAT162 Management Of Hypoglycemia In Von Gierke's Disease

Disclosure: A. Makda: None. A. Sood: None. O. Syed: None. K. Nihan: None. Introduction: Glycogen Storage Disease Type-1 (GSD-1)is due to deficiency in Glucose-6-Phosphatase (G6P) results in excessive accumulation of glycogen and fat in the liver, kidney. GSD-1 have a wide spectrum of symptoms including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Manifestations of the disease vary in age of onset, rate of disease progression, and severity. Case:18-year-old male with GSD-1a, Von Gierke's disease, hyperuricemia and hypertension presented to the hospital with nausea and vomiting. Patient followed an hourly cornstarch regimen during the day and overnight through infusion via PEG tube. The complaints started at work where he was unable to tolerate oral cornstarch. ABG showed metabolic acidosis, labs showed Leukocytosis, hyperkalemia, acute kidney injury, elevated liver enzymes, hypertriglyceridemia, lactic acidosis. CT abdomen showed hepatomegaly and fatty infiltration with PEG tube intact. He was admitted to the ICU and started on D5NS for hypoglycemia and lactic acidosis. Per request by the patient's pediatrician, he was transitioned to IV D10- 0.45NS at 110mL/Hr to maintain blood glucose above 75 mg/L. Frequent accuchecks were done till he could tolerate his dietary regimen with cornstarch. Lactic Acid downtrended to 2.9 and accuchecks ranged between 100-110. Cr improved to 1.3, and his home medications (Allopurinol and Lisinopril) were resumed. He was discharged in stable condition with plans for further genetic therapy work up. Discussion: Mainstay therapy for Von Gierke's Disease is prevention of metabolic derangements for which dietary and lifestyle changes are recommended. A low fructose and sucrose diet is recommended with limiting the intake of galactose and lactose to one serving per day. Hypoglycemia treatment in such patients is two fold; utilizing both quick and stable release sources. Cornstarch has been once such therapy since the 1980, its slow digestion provides a steady release of glucose over a longer period of time as compared with other sources of carbohydrates. Dosing guidelines vary from age to age and person to person but it is highly recommended to check BG levels frequently to maintain a BG > 70 mg/dL. Associated high levels of triglycerides and cholesterol can be treated with statins, fibrates, etc. Conclusion: The management of hypoglycemia in GSD 1 disease presents various obstacles which could prove to be fatal. Due to the deficiency of G6P, treatment with a specialized hypoglycemic regimen is warranted. A D10 ½ NS infusion can be used to maintain blood sugar levels as well as correct metabolic or lactate imbalances. Infusion should be gradually weaned off after the patient can tolerate oral feeds as this can help prevent the risk of hypoglycemia and other derangements. Further research is needed in regards to these patients for more sustainable regimens. Presentation: Saturday, June 17, 2023