Diabetes Genes

GCK Guidelines in Pregnancy

Management of pregnancy in patients with hyperglycaemia due to disease-causing variants in the glucokinase (GCK) gene

Glucokinase is an enzyme present in the beta cells of the pancreas. It has a vital role in enabling the pancreatic beta cells to accurately detect circulating blood glucose levels and adjust insulin secretion accordingly to keep blood sugar levels at a homeostatic set point of approximately 5mmol/L. A disease-causing variant in the gene encoding the enzyme impairs its function and causes an inability of the pancreas to “sense” the circulating blood glucose. This means that insulin secretion is delayed causing a rise in the homeostatic set point of blood glucose typically with a fasting plasma glucose (FPG) between 5.5 and 8mmol/L.

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