Find in Library

It is estimated that between 0.5% to 2.8% of patients with diabetes have maternally inherited diabetes and deafness (MIDD), which is caused by a mutation at position 3243 of the mitochondrial DNA. The result of this mutation is reduced functional capacity of the respiratory enzyme complexes in mitochondria leading to reduced ATP generation. In the pancreatic beta cell, the altered ATP generation is thought to result in insulin deficiency, leading to diabetes. The diagnosis of MIDD is suspected based on the presence of one or more of 1) maternal heritability of diabetes or impaired glucose tolerance with a normal BMI, 2) hearing impairment and 3) maculopathy. Recognition is important as it allows tailored treatment and early detection, prevention and management of associated disorders in both the patient and their maternal relatives. We present two cases of MIDD and a review of the pathogenesis, clinical characteristics and management of this uncommon but under-recognised, monogenic form of diabetes.