🧬 Gene Summary: AKT2
A rare cause of congenital hypoinsulinaemic hypoglycaemia, sometimes associated with overgrowth features
What does the AKT2 gene do?
The AKT2 gene provides instructions to make a protein involved in the insulin signalling pathway. This pathway helps cells respond properly to insulin by allowing glucose to move from the blood into the body’s tissues.
How can changes in the AKT2 gene cause hyperinsulinism?
Certain changes in the AKT2 gene make insulin signalling overactive, even when insulin levels are low. This can trick the body into acting as if there is too much insulin activity.
As a result:
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Blood sugar can drop too low (hypoglycemia)
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The pancreas may not be the main problem—the issue is how the body responds to insulin
AKT2-related hyperinsulinism works differently from more common genetic causes.
How common are changes in the AKT2 gene in hyperinsulinism?
Changes in AKT2 are very rare. Only a small number of children with congenital hyperinsulinism are known to have AKT2-related disease.
How are changes in the AKT2 gene inherited?
AKT2-related hyperinsulinism is caused by dominantly acting changes. This means that having one altered copy of the gene can cause symptoms. Most changes are:
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New (de novo) changes
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The gene change occurs for the first time in the child
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Parents typically do not carry the change
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💡 A genetic counsellor can help explain inheritance and what this means for future pregnancies.
What does an AKT2 change mean for my child?
Children with AKT2-related disease may:
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Have low blood sugar starting at or soon after birth
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Need frequent feeding or IV glucose in infancy
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Have low insulin levels despite hypoglycaemia
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Sometimes show increased growth or asymmetry of body parts
Symptoms and severity can vary, and careful monitoring is important.
How does this affect treatment?
Knowing a child has an AKT2 gene change helps doctors:
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Understand why insulin levels may appear low during hypoglycaemia
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Focus treatment on maintaining safe blood sugar levels
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Tailor medications and feeding strategies
Treatment plans are individualized, and management often improves with time and experience.
Where can I learn more or get support?
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Talk with your child’s hyperinsulinism care team
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Meet with a genetic counsellor
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Connect with hyperinsulinism family support organizations