Therapeutic options in a patient with MELAS and diabetes mellitus: follow-up after 6 months of treatment

Excerpt

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome are a maternally inherited mitochondrial genetic disorder characterized by defective oxidative phosphorylation. The adenine-to-guanine transition at position 3243 in the MT-TL1 gene is the most common mutation of mitochondrial DNA found in patients with MELAS syndrome. As other mitochondrial disorders, MELAS syndrome can develop in the neonatal phase, childhood, or adulthood, and show a broad spectrum of clinical presentations. Neurological and muscular disturbances (i.e., stroke-like episodes, recurrent migrainous headaches, seizures, and muscle weakness with exercise intolerance) are the earliest and most frequent manifestations of the disease. However, mitochondrial diseases, including MELAS syndrome, are multi-organ disorders including cardiomyopathy, nephropathy, hypothyroidism, and diabetes (DM). …