[MIM 232 200]

(Glycogen storage disease type Ia)

Prevalence: 1/100.000. Autosomal recessive transmission of a mutation of the G6PC1 gene (17q21.31) causing a deficiency in glucose-6-phosphatase in the liver, kidneys and small bowel. Early onset (first months of life).

Clinical signs:

-        hepatomegaly without splenomegaly, risk of liver adenomas and hepatomas

-        muscular hypotrophy, chubby facies

-        hypoglycemia with hyperlactacidemia; convulsions, coma, and mental retardation if medical treatment is not followed

-        short stature,

-        tendency to bleeding despite a normal or increased platelet count

-        hyperuricemia with risk of urinary lithiasis

-        hypertriglyceridemia (xanthomas)

-        nephromegaly

-        osteoporosis.

Treatments: continuous glucose intake (night gavage with starch solutions); liver transplantation.

Anesthetic implications:

insure supply of glucose and measure blood glucose levels. Check the clotting parameters (platelets count). One case of pancreatitis secondary to hypertriglyceridemia following a continuous infusion of propofol has been reported.

References : 

• Bevan JC. Anaesthesia in Von Gierke's disease. 
  Current approach to management. 
  Anaesthesia 1980; 35:699-702.
• Bustamante SE, Appachi E. 
  Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA. 
  Pediatr Anesth 2006; 16: 680-3.

Updated: June 2019