Autosomal recessive transmission.

• type Ia: deficiency in glucose-6-phosphatase (type Ia), mutation of the G6PC gene (17q21); see Von Gierke disease;
• type Ib: deficiency in glucose-6-phosphate translocase T1 (type Ib), mutation of the G6PT gene (11q23). Association of hepatomegaly with hypoglycemia (convulsions, coma) and neutropenia with dysfunction of neutrophils (major risk of bacterial gram-positive + infections); specific treatment: in addition to the prevention of hypoglycemia, repeated injections of G-CSF (stimulation of the synthesis of neutrophils) 
• type Ic: deficiency in glucose-6-phosphate translocase T2 ( mutation on 11q23), transporting the inorganic PO4 of the cytosol to the microsomes and the cytosolic pyrophosphates to the microsomes ; 
• type Id: deficiency in the carrier of glucose-6-phosphate (mutation on 11q23 ), transporting the glucose from the microsomes to the cytosol.

Forms b, c and d are difficult to distinguish clinically and some question the existence of the c and d forms.

In 4 forms:

-         hepatomegaly (sometimes 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); in case of failure: liver transplantation.

Anesthetic implications: 

prolonged preanesthetic fasting should be avoided; check platelet function (thromboelastography); monitoring of glucose and lactic acid. A case of postoperative major hyperthermia falsely suspected  of malignant hyperthermia has been reported as well as a case of pancreatitis secondary to hypertriglyceridemia due to the use of a continuous infusion of propofol in a  child suffering of the type Ia.

References : 

• Simmons PS, Smithson WA, Gronert GA, Haymond MW. 
  Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease. 
  J Pediatr 1984; 105:428-31.
• Shenkman Z, Golub Y, Meretyk S, Shir Y, Landau D, Landau EH. 
  Anaesthetic management of a patient with glycogen storage disease type 1b. 
  Can J Anaesth 1996; 43: 467-70.
• 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: April 2019