Von Gierke Disease

An inborn error of glycogen metabolism caused by glucose-6-phosphatase (G6P) deficiency. The disease is characterized by hepatomegaly, hypoglycemia, and hyperlacticacidemia. Lethal in infancy or childhood.

Glycogen Storage Disease type Ia; Glucose-6-Phosphatase Deficiency.

First described in 1929 by Edgar Otto Conrad von Gierke, a German pathologist.

Estimated to be approximately 1:100,000 live births.

Autosomal recessive. Located at 17q21.

Deficiency of glucose-6-phosphatase in liver and kidneys, leading to increased glycogen concentrations in these organs. No involvement of skeletal or cardiac muscle. Caused by mutations in the glucose-6-phosphatase catalytic gene (G6PC).

Infant develops hepatomegaly with poor feeding and failure to thrive. Marked hypoglycemia, lactic acidosis, hyperlipidemia, and hyperuricemia are frequently present. Absent hyperglycemic response to glucagon or epinephrine administration.

Delayed growth, peculiar “doll-like” facies. Mental development can be normal; however, seizures are frequently caused by neurological impairment or by hypoglycemia. Episodes of profound hypoglycemia and lactic acidosis may be prevented by frequent daytime feeding and continuous enteral feeding at night. Renal and hepatic involvement can be observed (reduced creatinine clearance, focal segmental glomerulosclerosis, renal stones, liver adenomas, hepatocellular carcinoma, hepatomegaly with enlarged liver and kidneys, secondary platelet dysfunction with prolonged bleeding). Osteoporosis, gouty arthritis, and xanthoma are frequent. Hypertension can occur. Survival to adulthood is common with appropriate management.

Obtain history of dietary management. Aim to maintain normal intake of carbohydrate as intravenous (IV) glucose infusion during perioperative period. Obtain history of abnormal bleeding. Check platelet count. Check blood glucose, electrolytes, creatinine, blood gases, and liver function regularly. Evaluate neurological function (clinical, EEG, CT).

Main risk is the development of hypoglycemia and lactic acidosis perioperatively. Establish infusion of dextrose preoperatively to maintain normal carbohydrate intake (may require 20% dextrose concentration). Avoid prolonged fasting with early establishment of enteral feeding postoperatively if possible. Monitor blood glucose and blood gases (place arterial catheter for prolonged surgical procedures). Avoid regional techniques (bleeding tendency). Hepatomegaly may be sufficient to cause respiratory compromise during mask anesthesia.

Cis-atracurium is the muscle relaxant of choice (renal dysfunction). Avoid lactate-containing IV fluids. No agents are specifically contraindicated. Consider the benefit of using aminoglycosides in cases of renal dysfunction.