Endocrine Abstracts

JOINT1709

Glycogen Storage Disease Type 1a (GSD type 1a) is a rare, autosomal recessive disorder characterized by defects in the glucose-6-phosphatase enzyme. Patients with GSD type 1a can experience severe metabolic complications, including hypoglycemia, hyperlipidemia, hyperuricemia, hypertension, liver dysfunction, hepatomegaly, splenomegaly and hepatic adenomas. Additionally osteoporosis and growth retardation can occur. Liver transplantation has emerged as an effective therapeutic option in cases of metabolic complications. Here, we present a case to emphasize the potential benefits of liver transplantation in GSD type 1a. A 20-year-old male patient was referred to our outpatient clinic for evaluation of persistent hypoglycemia, hypertriglyceridemia, and osteoporosis following a femoral fracture in 2021. He had been diagnosed with GSD type 1a in infancy due to recurrent episodes of hypoglycemia. Despite being managed with amylopectin cornstarch, his metabolic control remained suboptimal. The patient experienced level 1 or 2 hypoglycemia once or twice a week, even with strict adherence to his diet. His triglyceride levels, despite a low triglyceride diet and the use of gemfibrozil 600 mg twice daily, ranged from 700 to 1600 mg/dl. Furthermore, his uric acid level remained elevated at 6.5 mg/dl despite being on daily allopurinol therapy (300 mg). He had ALT of 158 U/l, AST of 161 U/l, GGT of 168 U/l and ALP of 127 U/l. On physical examination, the patient had a height of 158 cm and a weight of 54 kg, with Tanner stage 3 pubic hair and stage 4 genitalia. Serial abdominal MRIs demonstrated multiple stable hepatic adenomas over a two-year period. His Bone Mineral Density (BMD) at L1-L4 was 0.420, with a Z-score of -6.0, confirming the presence of osteoporosis. In January 2024, the patient underwent a living donor liver transplantation as part of his metabolic management. Post-transplant he didn’t experience further hypoglycemic episodes. His triglyceride levels decreased to a range of 100-200 mg/dl, and his uric acid level normalized to 6 mg/dl without the need for allopurinol. His liver function tests returned to normal ranges. The patient continues to receive weekly 20, 000 IU of Vitamin D and BMD monitoring is scheduled. Liver transplantation has proven to be an effective therapeutic intervention in patients with GSD type 1a, particularly in managing metabolic complications. In cases where metabolic control cannot be adequately achieved, early liver transplantation should be considered. Further research is necessary to explore and refine treatment strategies for rare metabolic disorders like GSD type 1a.