MELAS Syndrome and MIDD Unmasked by Metformin Use: A Case Report
Authors: Na Hyun Kim, Mahrukh Siddiqui, Jonathan Vogel
Journal: Annals of Internal Medicine (2020)

LettersJanuary 2021MELAS Syndrome and MIDD Unmasked by Metformin Use: A Case ReportNa Hyun Kim, MBBS, Mahrukh Siddiqui, MBBS, and Jonathan Vogel, MDNa Hyun Kim, MBBSAmita Health Saint Joseph Hospital, Chicago, Illinois (N.H.K., M.S., J.V.), Mahrukh Siddiqui, MBBSAmita Health Saint Joseph Hospital, Chicago, Illinois (N.H.K., M.S., J.V.), and Jonathan Vogel, MDAmita Health Saint Joseph Hospital, Chicago, Illinois (N.H.K., M.S., J.V.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/L20-0292 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail 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 ...References1. Rena G, Hardie DG, Pearson ER. The mechanisms of action of metformin. Diabetologia. 2017;60:1577-85. [PMID: 28776086] doi:10.1007/s00125-017-4342-z CrossrefMedlineGoogle Scholar2. Henry C, Patel N, Shaffer W, et al. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes-MELAS syndrome. Ochsner J. 2017;17:296-301. [PMID: 29026367] MedlineGoogle Scholar3. Protti A, Lecchi A, Fortunato F, et al. Metformin overdose causes platelet mitochondrial dysfunction in humans. Crit Care. 2012;16:R180. [PMID: 23034133] doi:10.1186/cc11663 CrossrefMedlineGoogle Scholar4. Madiraju AK, Erion DM, Rahimi Y, et al. Metformin suppresses gluconeogenesis by inhibiting mitochondrial glycerophosphate dehydrogenase. Nature. 2014;510:542-6. [PMID: 24847880] doi:10.1038/nature13270 CrossrefMedlineGoogle Scholar5. Johns DR, Stein AG, Wityk R. MELAS syndrome masquerading as herpes simplex encephalitis. Neurology. 1993;43:2471-3. [PMID: 8255441] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Amita Health Saint Joseph Hospital, Chicago, Illinois (N.H.K., M.S., J.V.)Disclosures: Authors have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L20-0292.Corresponding Author: Na Hyun Kim, MBBS, Amita Health Saint Joseph Hospital, 2900 North Lakeshore Drive, Chicago, IL 60657; e-mail, Nahyun.[email protected]org.This article was published at Annals.org on 25 August 2020. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDelay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case reportMacular findings expedite accurate diagnosis of MIDD in a young female patient with newly diagnosed diabetesCase Report: Late-Onset Mitochondrial Disease Uncovered by Metformin Use in a Patient With Acute Verbal Auditory AgnosiaInitiation of metformin in MELAS patient–a dangerous combinationNeurological manifestations in m.3243A>G-related disease triggered by metforminThe Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 PatientsMetformin induces stroke-like episodes in a patient with mitochondrial diseaseMetformin January 2021Volume 174, Issue 1Page: 124-125KeywordsEncephalitisEpileptic seizuresHerpes simplexLactatesLactic acidLactic acidosisMagnetic resonance imagingMitochondrial DNARespirationTemporal lobe ePublished: 25 August 2020 Issue Published: January 2021 Copyright & PermissionsCopyright © 2020 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...