Overview

Characterised by a deficiency in either:

• Glucose-6-phosphatase activity: GSD Ia

• Glucose-6-phosphate translocase (microsomal transport protein): GSD Ib

These proteins are expressed primarily in liver, kidney, and intestine.

Pathophysiology

An autosomal recessive disease characterised by an inability to use the glucose-6-phosphatase enzyme in glycogenolysis and gluconeogenesis.

Patients are often diagnosed in infancy when the duration between feeds increases, leading to hypoglycaemia and lactic acidosis.

Accumulation of glycogen and fat leads to hepatomegaly and nephromegaly, with associated organ dysfunction.

Intellectual disability and seizures can result from repeated severe hypogycaemia.

[Bali et al, 2021]

Impacts on anaesthesia

Lactate-containing fluids

Expert opinion Theoretical risk of accumulation of lactate (i.e. the conjugate base of lactic acid), which can confound assessment of acid-base status.

However, lactate-containing fluids have been used in several patients without incident in one case series [Gurrieri et al, 2017].

Avoidance of hypoglycaemia

Expert opinion Impaired gluconeogenesis and glycogenolysis leads to a poor tolerance for fasting and high risk of perioperative hypoglycaemia. Provision of enteral or intravenous glucose-containing solution and frequent blood glucose monitoring is recommended.

Glucagon

Expert opinion Administration of glucagon for hypoglycaemia is unlikely to raise blood glucose levels even with minimal fasting. In addition, it may increase lactic acid production.

Historically used to screen for glycogen storage diseases [Dunger et al, 1982], the glucagon stimulation test is no longer recommended.

Platelet dysfunction

Expert opinion A proportion of patients exhibit a bleeding diathesis, which has been attributed to platelet dysfunction [Czpek et al, 1973] and reduced von Williebrand factor levels [Muhlhausen et al, 2005].

Drugs that affect platelet function should be used with caution.