Diabetes and Mitochondrial Encephalomyopathy

Abstract

The identification of patients with monogenic forms of diabetes is challenging. Nonetheless, the importance of identifying such individuals has been underscored by the different therapeutic and prognostic implications. The mutation m3243 AϾG in the mitochondrial DNA tRNA Leu(UUR) gene has been found to be associated with the syndrome of maternally inherited diabetes and deafness. In the presence of higher levels of mutant mitochondrial DNA, the phenotypic presentation consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome and epilepsy. We report a family with mitochondrial diabetes and the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome.