6765 Surveillance For Side Effects Of Glycemic Control: Von Gierke Disease And Recurrent Diarrhea With Hospitalized Approach

Abstract

Abstract Disclosure: J. Gone: None. E. Fegahli: None. T. Thompson: None. Background: Von Gierke disease is an autosomal recessive disorder leading to the inability to break down glycogen. Clinical features manifest at 3-6 months including symptoms of hypoglycemia, short stature, thin legs, round face, protruding abdomen, muscular hypotonia, and psychomotor retardation. Workup shows hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, anemia, hepatomegaly, and renomegaly. Patients may develop inflammatory bowel disease, osteopenia, renal failure, hepatic tumors, and pulmonary hypertension. Molecular sequencing confirms the diagnosis. Feeding glucose at regular intervals prevents hypoglycemia. One should avoid fructose, lactose, sucrose, and galactose. Oral citrate or bicarbonate is used to treat lactic acidosis. Gout, hyperlipidemia, anemia, IBD and osteoporosis are managed accordingly. Regular screening for osteoporosis, renal failure, hepatic tumors, and pulmonary hypertension is recommended. Liver transplantation results in optimal management. Gene therapy clinical trials are underway. Clinical Case: We present a case of von Gierke disease in a 20-year-old male presenting to the Emergency Department for recurrent nausea, emesis, poor oral intake, water diarrhea and subjective fever. Inpatient workup showed lactic acidosis, hyperuricemia, hypertriglyceridemia, transaminitis, and fibrofatty hepatomegaly. Intravenous fluids, antiemetics and cornstarch were given. Symptoms including nausea, emesis, and diarrhea improved, most notably after adjustments made to cornstarch dosage and frequency. The patient was discharged with an antiemetic and an antidiarrheal and with recommendations to continue scheduled cornstarch. Patient was educated about the importance of proper diet compliance and close outpatient follow up. Hence, management of von Gierke disease should include not only strict glycemic control but also close surveillance for possible side effects, such as diarrhea. Moreover, future studies are necessary to support empiric modifications in management despite a basis of a hypothetical rationale. Conclusion: An essential goal of managing GSD-1 is not only strict glycemic control but also close surveillance for possible side effects, such as diarrhea. Adjustments to maintaining normoglycemia may be mandatory by manipulating factors including dosage and frequency of oral carbohydrates, such as cornstarch, to reduce the recurrence of side effects as much as possible. Treatment regimens should be individualized to each case because the initial presentation and response to treatment in every patient can be different, whether it is minor or major. Future studies about the mechanisms regarding possible side effects of treatment, such as diarrhea, are warranted to corroborate empiric changes in management, like adjusting dosage and frequency or medications, despite having a hypothetical rationale. Presentation: 6/1/2024