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
First described in 1929 by Edgar Otto Conrad von Gierke, a
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
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.
Bevan JC: Anesthesia in Von Gierke's disease. Current approach to
von Gierke E: Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit
der Leber und Nieren). Beiträge zur pathologischen Anatomie und zur allgemeinen Pathologie 82:497, 1929.