Case Report A 26 year old primigravida, was diagnosed with Maturity Onset Diabetes of the Young (MODY) type 2 at the age of 15 after having previous history of impaired glucose tolerance. She has family history of diabetes affecting her father, maternal grandmother, paternal grandfather and paternal greatgrandmother. Her OGTT result (0hr=7.8mmol/L; 2hr=8.0mmol/L) is consistent with a diagnosis of MODY, subtype glucokinase. Genetic testing confirmed mutations tested GCK Exons1-10. In pregnancy, she was commenced on 5 mg Folic acid and was managed as per gestational diabetes's treatment. Her glucose control was managed by diet only and she had induction of labour at 40 weeks gestation.
Discussion Glucokinase (GCK) is an enzyme present in the B-cells of the pancreas. It has a vital role in enabling pancreatic B-cells to detect circulating blood glucose levels accurately and adjust insulin secretion accordingly to keep blood glucose levels at a homeostatic set point of approximately 4.5 mmol/l. A mutation in the gene encoding the GCK enzyme impairs its function and thus, insulin secretion is delayed, causing a rise in the blood glucose. Patients with this condition are usually asymptomatic and are at low risk from the usual microvascular complications of diabetes. Treatment is not usually necessary. There is a 50% chance that offspring of an affected individual will inherit the condition. If the offspring has the same gene abnormalilty he or she will also run a high glucose from birth but this is normal for the child and doesn't carry health consequences.
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