SAT-554 - Successful Management of Pregnancy and Delivery in a Patient With Glycogen Storage Disease Type 1A

Background: Glycogen storage disease type 1A (GSD 1A, von Gierke disease) is a rare autosomal recessive metabolic disorder caused by glucose‑6‑phosphatase deficiency, leading to impaired glycogenolysis and gluconeogenesis (1,2). Patients are susceptible to fasting hypoglycemia and metabolic complications such as lactic acidosis, with risks heightened during pregnancy due to increased glucose demand and physiologic stress (3). Few pregnancies in GSD 1A have been reported, and standardized peripartum management strategies and use of continuous glucose monitoring are not established (3, 4, 5).

Case Description: We report a 25‑year‑old gravida 1 para 0 woman with GSD 1A and chronic hypertension who presented at 35 weeks’ gestation with headache, visual disturbance, right upper quadrant pain, and edema, concerning for preeclampsia. She was diagnosed with GSD 1A in infancy and had a disease course complicated by hepatic adenomas, renal disease (proteinuria), hyperuricemia, hyperlipidemia, osteoporosis, and bleeding diathesis. Her outpatient regimen included uncooked cornstarch administered every 3-4 hours and continuous glucose monitoring (CGM). Throughout pregnancy, she was managed by a multidisciplinary team including a high-risk obstetrician (MFM), Endocrinology, a geneticist, a nutritionist, and a primary care physician. She was diagnosed with preeclampsia without severe features at ~ 35 weeks of gestation, with a planned cesarean delivery at 37 weeks.

Peripartum Management: At the start of fasting, continuous intravenous 10% dextrose infusion was initiated, and capillary glucose and serum lactate were monitored every 1-2 hours. CGM was used as an adjunct to point‑of‑care glucose testing to assess glycemic trends, but was not used as the sole guide for therapy due to its tendency to overestimate glucose levels during fasting states and class I hypoglycemia in GSD 1A (4). During her preoperative period, an unplanned interruption in dextrose infusion resulted in class 1 hypoglycemia and subsequent lactic acidosis, which resolved after resumption of the dextrose infusion. Cesarean delivery was otherwise uncomplicated, with stable intraoperative glucose measurements. Postoperatively, cornstarch therapy was resumed, and intravenous dextrose was gradually weaned over 3 hours. Our patient was discharged on postoperative day four in stable condition.

Conclusion: This case illustrates the complexity of managing pregnancy in patients with GSD 1A and emphasizes the need for uninterrupted continuous dextrose infusion, vigilant biochemical monitoring, cautious interpretation of CGM data, and multidisciplinary coordination. Individualized peripartum metabolic protocols are essential to prevent hypoglycemia and metabolic decompensation and to optimize maternal outcomes.

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