Monogenic diabetes
ICD-10 E13.9 · ICD-11 5A13.6

Monogenic Diabetes with Maternally Inherited Sensorineural Hearing Loss or Progressive External Ophthalmoplegia

Mitochondrial diabetes caused by the m.3243A>G mutation presents a distinctive clinical picture when accompanied by maternally inherited sensorineural hearing loss or progressive external ophthalmoplegia — a combination that calls for a management approach that differs meaningfully from standard type 2 diabetes care.

Clinical scenario

Mitochondrial diabetes (m.3243A>G mutation) should be suspected when a person presents with diabetes alongside maternally inherited sensorineural hearing loss or progressive external ophthalmoplegia. The m.3243A>G variant in mitochondrial DNA is the most common genetic cause of this form of monogenic diabetes.

Treatment approach

Initial management may involve dietary modification or selected oral glucose-lowering agents — however, agent selection in this population carries specific contraindications not present in typical diabetes management, owing to direct effects on mitochondrial function.

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References

  1. The most common form of mitochondrial diabetes is caused by the m.3243A>G mutation in mitochondrial DNA.
  2. Mitochondrial diabetes should be suspected in persons presenting with diabetes and maternally inherited sensorineural hearing loss, or diabetes and progressive external ophthalmoplegia.
  3. Persons with mitochondrial diabetes may initially respond to diet or oral hypoglycemic agents but often require insulin treatment within months or years.
  4. Metformin should be avoided as it interferes with mitochondrial function and may trigger episodes of lactic acidosis.
DOI: 10.1111/pedi.13426 View source ↗