D0542 - A Rare Case of Glycogen Storage Disease Presenting as Liver Failure in an Adult

Ankita Prasad, MD¹, Dina Alnabwani, MD¹, Pramil Cheriyath, MD, MS¹, Varun Vankeshwaram, MD², Sheilabi Seeburun, MD^2
1Ocean University Medical Center, Brick, NJ; ²Hackensack Meridian Ocean Medical Center, Brick, NJ

Introduction: Glycogen storage disorder (GSD)III results from the absence of enzymes in converting glycogen to glucose, which results in the accumulation of glycogen in tissues. It usually presents in childhood with hypoglycemia and hepatomegaly. It is an autosomal recessive disease, accounting for 2.3 in 100,000 children in the United States annually.

Case Description/Methods: The patient is a 22-year-old previously healthy man with a one-month history of jaundice, fatigue, weight loss, and pain in the abdomen, no history of medical or surgical illness, blood transfusions, or taking herbal supplements or medications. On examination, he had jaundice, bruises on his upper and lower limbs, a palpable splenic tip, and no hepatomegaly or ascites. His liver function tests showed bilirubin of 92 mol/L with normal enzymes, albumin of 23 g/L, and PT/INR 22/1.8. The random blood sugar of 5.0 mmol/L; pancytopenia, neutropenia, thrombocytopenia, and anemia with raised LDH; negative autoantibody screens; negative for infection; normal serum copper; ultrasound showed splenomegaly; a liver biopsy revealed significant glycogen load in hepatocytes on special stains; He was then referred for further management of GSD with cirrhosis

Discussion: GSD III presents in infancy with hypoglycemia and hepatomegaly. It is associated with full cheeks, hypertriglyceridemia, hypoglycemia, immunodeficiency, intellectual disability, short stature, and myopathy. This condition is diagnosed by histology and genetic testing. It can cause cirrhosis with liver failure and lesions with malignant transformations. Treatment aims to prevent hypoglycemia through carbohydrate meals and night feeds with cornstarch.


Disclosures:


Ankita Prasad, MD¹, Dina Alnabwani, MD¹, Pramil Cheriyath, MD, MS¹, Varun Vankeshwaram, MD², Sheilabi Seeburun, MD². D0542 - A Rare Case of Glycogen Storage Disease Presenting as Liver Failure in an Adult, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.