Glycogenosis type I. Von Gierke disease. Glucose-6-phosphatase deficiency.
Incidence
AR inheritance. Relatively common in the group of glycogenosis.
Clinical Characteristics
It is a disease characterized by hypoglycemic seizures, but also seizures without hypoglycemia. Sometimes there are other focal neurological Sx. such as hemiparesis. There is usually hypotonia. Enlarged liver & kidneys. Ketoacidosis, hyperlipidemia. Muscle is normal. Repeated hypoglycemic attacks may result in severe chronic neurological deficits. Subcutaneous fat is increased. Xanthomas of the skin observed. Massive hepatomegaly. Hepatocellular carcinoma reported. Doll's face.
Precipitants
Fasting is the usual trigger. Also intercurrent infections, vomiting.
Provocation Tests
Epinephrine or glucagon demonstrate failure of blood glucose to increase after 10-20 minutes.
Diagnostic Procedures
EB-W, EB-liver. Usual laboratory abnormalities include lactic acidosis, hyperuricemia, hypertriglyceridemia and hypophosphatemia. The hypoglycemia is unresponsive to glucagon.