Try it
Biochemistry · Carbohydrate metabolism: glucokinase and MODY
Sample itemA 22-year-old woman has a fasting plasma glucose of 118 mg/dL on three occasions, HbA1c 6.4% and a 2-hour OGTT glucose of 150 mg/dL. She is lean and asymptomatic, her father and a sister have similar mild values, and islet autoantibodies are negative. Genetic testing shows a heterozygous inactivating glucokinase mutation. What is the most appropriate management?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Reassurance and observation without pharmacological treatment
Glucokinase acts as the beta-cell glucose sensor, and a heterozygous loss of function raises the glucose threshold for insulin release. This causes mild, stable fasting hyperglycaemia present from birth (GCK-MODY) with a small rise after meals and very low risk of complications. Treatment does not change glycaemia, so it is unnecessary except sometimes in pregnancy decisions made by specialists.
Option by option
A. Lifelong basal insulin
Insulin is not needed and the regulatory set point simply resets glucose upward.
B. Sulfonylurea at low dose
Sulfonylureas are first-line in HNF1A and HNF4A MODY, not in glucokinase MODY, where they are ineffective.
C. Metformin and weight-reduction programme
Metformin and weight loss are for type 2 diabetes with insulin resistance and do not alter the glucokinase set point.
D. Reassurance and observation without pharmacological treatment (correct)
Correct. GCK-MODY needs no drug treatment because glycaemia is mild, stable and does not cause complications.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Biochemistry questions
- Nucleotide metabolismA 4-year-old boy has intellectual disability, dystonia, self-mutilation and hyperuricaem…
- VitaminsA patient with megaloblastic anaemia and mild neurological signs has raised serum methyl…
- Amino acid metabolismA baby has a mousy odour, fair skin and developmental delay. Which enzyme is deficient?
- Glycogen storage diseasesA child has severe fasting hypoglycaemia, hepatomegaly, lactic acidosis and hyperuricaem…