[MIM 232 700]

(Glycogen storage disease type VIB)

Autosomal recessive transmission of a mutation of the PYGL gene (14q 21-22). It results in a deficiency in hepatic phosphorylase, the limiting enzyme  of glycogenolysis.

Presents in childhood and is characterized by hepatomegaly and growth retardation. Hypoglycemic episodes are mild or absent, and the transaminases levels and hyperlipidemia are moderate and inconstant. Hepatomegaly usually decreases with age and  disappears completely at puberty. A high-carbohydrate diet and regular meals are sufficient to prevent hypoglycemia in children but most patients do not require any treatment. The prognosis is usually good.

Normal intelligence and life expectancy.

Anesthetic implications:

Shorten the preoperative fasting time. Start an electrolytes containing glucose infusion pre, per - and postoperatively.

Updated: March 2019