Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report

Glycogen storage disease type I (GSDI) is an uncommon condition resulting from a deficiency or absence of glucose-6-phosphatase, a key enzyme in regulating blood glucose levels. In this report, we describe a two-month-old girl diagnosed with GSDI who presented to the emergency department in a tertiary care hospital for irritability, excessive crying, and hyperventilation. She was found to have hepatomegaly and hypoglycemia. Laboratory investigations showed high levels of triglycerides, lactic acid, uric acid, and calcium. The combination of hypertriglyceridemia, hypoglycemia, and hepatomegaly should alert neonatologists and pediatricians to consider GSDI in the diagnosis. Hypercalcemia arose as an unknown problem in GSDI patients and should be considered during acute attacks.