This protocol addresses monogenic diabetes arising from mitochondrial dysfunction. Recognising the specific clinical presentation is essential to applying the correct management pathway.

Clinical Presentation

The most common form of mitochondrial diabetes is caused by the m.3243A>G mutation in mitochondrial DNA. This diagnosis should be suspected when diabetes presents alongside maternally inherited sensorineural hearing loss, or when it co-occurs with progressive external ophthalmoplegia — features that distinguish this from common forms of type 1 or type 2 diabetes.

Treatment Approach

The evidence-based protocol for this presentation involves insulin treatment. The full clinical approach — including sequencing and decision points — is available via the link below.

References

DOI: 10.1111/pedi.13426

The most common form of mitochondrial diabetes is caused by the m.3243A>G mutation in mitochondrial DNA.
Mitochondrial diabetes should be suspected in persons presenting with diabetes and maternally inherited sensorineural hearing loss, or diabetes and progressive external ophthalmoplegia.
Persons with mitochondrial diabetes may initially respond to diet or oral hypoglycemic agents but often require insulin treatment within months or years.

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Treatment of Monogenic Diabetes with Maternally Inherited Sensorineural Hearing Loss or Progressive External Ophthalmoplegia (Mitochondrial m.3243A>G Mutation)

References