MELAS Syndrome and MIDD Unmasked by Metformin Use: A Case Report
Abstract
MELAS Syndrome and MIDD Unmasked by Metformin Use: A Case Report Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a syndrome caused by genetic defects in mitochondrial DNA. The most common gene variant associated with this syndrome is the m.3243A>G point mutation in the MT-TL1 gene. This variant is also responsible for a rare type of diabetes known as maternally inherited diabetes and deafness (MIDD). Metformin is widely prescribed as the initial drug treatment for type 2 diabetes mellitus, and one of its cellular targets is mitochondrial respiration in hepatocytes (1). Metformin has not been studied in patients with mitochondrial dysfunction, so its use is discouraged in these patients (2). Objective: To describe how use of metformin can reveal the presence of MELAS syndrome and MIDD. Case Report: A 27-year-old White man was evaluated in our emergency department for new-onset seizure disorder. He had been in his usual state of good health until the evening before admission, when he had headache and malaise followed by a generalized tonic-clonic seizure. His medical history included bilateral sensorineural hearing loss diagnosed at age 15 years and recently diagnosed diabetes mellitus. On physical examination, he had no focal neurologic deficits. His initial laboratory results included a plasma glucose level of 10.5 mmol/L (189 mg/dL) and an elevated lactic acid level (2.5 mmol/L; reference range, 0.7 to 2.0 mmol/L). Brain…
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