ImmunoDeficiency Resource (IDR)

Patients with glycogen storage disease type I are unable to release glucose from glycogen. Because free glucose is the product of the hepatic glucose-6 phosphatase reaction, either type leads to accumulation of liver glycogen, accompanied by fasting hypoglycemia. Hepatomegaly is the clinical hallmark of disease. They cannot maintain their blood glucose levels and within a few hours after eating develop hypoglycemia (low blood sugar). The low levels of glucose in the blood of these patients often result in chronic hunger, fatigue, and irritability that is especially noticeable in infants. Symptoms of hypoglycemia only begin to appear when the interval between feedings increases and the infant sleeps through the night or when an illness prevents normal feeding routine. If the blood sugar falls to a low enough point, some patients may experience seizures. Patients can develop frequent bacterial and fungal infections, due to abnormal functioning of the white blood cells. They may also develop chronic pancreatitis, chronic inflammatory bowel disease, and Crohn's disease. Recurrent infections, including severe oral ulceration and abscesses, are associated with a neutropenia and neutrophil dysfunction.