Very rare. Autosomal recessive transmission of mutations in the GYS2 gene (12p12.2)  leading to hepatic glycogen synthase deficiency. This results in a lack of liver glycogen stores (hypoglycemia with ketosis, sometimes convulsions in the morning before breakfast) and an inability to synthesize glycogen (postprandial hyperglycemia and hyperlactatemia).

There is no hepatomegaly but cases of liver steatosis have been reported. There is frequently some delayed physical development that improves with the control of glycemia.

Treatment: frequent intake of carbohydrate meal (including in the evening).

Anesthetic implications: 

Avoid a long fasting time. Monitoring of blood glucose level.

References : 

-         Bachbrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. 
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. 
J Pediatr 2002; 140: 781-3.

Updated: April 2019