Research & Literature

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

El-Hattab AW, Adesina AM, Jones J, Scaglia F

Molecular genetics and metabolism 2015; (116(1-2)):4-12.

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.

Fryer RH, Bain JM, De Vivo DC

Pediatric neurology 2016; (56()):59-61 doi:10.1016/j.pediatrneurol.2015.12.010.

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

El-Hattab AW, Emrick LT, Hsu JW, et al.

Molecular genetics and metabolism 2016; (117(4)):407-12.

Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis.

Zhiping W, Quwen L, Hai Z, et al.

Folia neuropathologica 2016; (54(1)):66-71 doi:10.5114/fn.2016.58917.

Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

Lee HN, Eom S, Kim SH, et al.

Pediatric neurology 2016; (64()):59-65 doi:10.1016/j.pediatrneurol.2016.08.016.

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

Rudnicki M, Mayr JA, Zschocke J, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2016; (68(6)):949-953 doi:10.1053/j.ajkd.2016.06.027.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Frey S, Geffroy G, Desquiret-Dumas V, et al.

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(1)):284-291 doi:10.1016/j.bbadis.2016.10.028.

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.

Pröbstel AK, Schaller A, Lieb J, et al.

Neurology. Genetics 2016; (2(6)):e121 doi:10.1212/NXG.0000000000000121.

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

Seitun S, Massobrio L, Rubegni A, et al.

Case reports in cardiology 2016; (2016()):1490181 doi:10.1155/2016/1490181.

Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings.

Cai SS, von Coelln R, Kouo TJ

Radiology case reports 2016; (11(4)):425-429 doi:10.1016/j.radcr.2016.09.003.

Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique.

El-Hattab AW, Jahoor F

The Journal of nutrition 2017; (147(7)):1251-1257 doi:10.3945/jn.117.248435.

Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T.

Golla S, Ren J, Malloy CR, Pascual JM

Neurology. Genetics 2017; (3(3)):e160 doi:10.1212/NXG.0000000000000160.

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses.

Kuno T, Imaeda S, Asakawa Y, et al.

Case reports in cardiology 2017; (2017()):9473917 doi:10.1155/2017/9473917.

Arginine and citrulline for the treatment of MELAS syndrome.

El-Hattab AW, Almannai M, Scaglia F

Journal of inborn errors of metabolism and screening 2017; (5()) doi:10.1177/2326409817697399.

MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.

Yu N, Zhang YF, Zhang K, et al.

eNeurologicalSci 2016; (4()):15-18 doi:10.1016/j.ensci.2016.04.006.

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, et al.

EMBO molecular medicine 2018; (10(6)) doi:10.15252/emmm.201708262.

Simultaneous 18F-FDG PET/MRI Assists Diagnosis of a Rare Disease, MELAS.

Liu F, Ruan W, Wang Y, Lan X

Clinical nuclear medicine 2019; (44(1)):81-82 doi:10.1097/RLU.0000000000002344.

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

Baek MS, Kim SH, Lee YM

Yonsei medical journal 2019; (60(1)):98-105 doi:10.3349/ymj.2019.60.1.98.

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Gagliardi D, Mauri E, Magri F, et al.

Frontiers in neurology 2019; (10()):38 doi:10.3389/fneur.2019.00038.

A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features.

Hongo Y, Kaneko J, Suga H, et al.

Journal of neurology 2019; (266(6)):1459-1472 doi:10.1007/s00415-019-09283-3.

[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].

Zhang Q, Sun YL, Zhang CP, et al.

Zhonghua bing li xue za zhi = Chinese journal of pathology 2019; (48(4)):298-302 doi:10.3760/cma.j.issn.0529-5807.2019.04.007.

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.

Sinnecker T, Andelova M, Mayr M, et al.

BMC neurology 2019; (19(1)):91 doi:10.1186/s12883-019-1306-6.

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.

Fukuda M, Nagao Y

Journal of medical case reports 2019; (13(1)):313 doi:10.1186/s13256-019-2255-9.

Haemorrhagic Transformation of a MELAS Stroke-Like Lesion.

Bensaidane MR, Camden MC, Savard M

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2020; (47(1)):117-118 doi:10.1017/cjn.2019.317.

Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

Ikawa M, Povalko N, Koga Y

Current opinion in clinical nutrition and metabolic care 2020; (23(1)):17-22 doi:10.1097/MCO.0000000000000610.

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.

Liu G, Shen X, Sun Y, et al.

Journal of the neurological sciences 2020; (408()):116562 doi:10.1016/j.jns.2019.116562.

Adult onset MELAS Syndrome Presenting as A Mimic of Herpes Simplex Encephalitis.

Chen WT, Lin YS, Wang YF, Fuh JL

Acta neurologica Taiwanica 2019; (28(2)()):46-51.

Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review.

Rashid J, Kumar SS, Job KM, et al.

Paediatric drugs 2020; (22(3)):279-293 doi:10.1007/s40272-020-00384-5.

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Esterhuizen K, Lindeque JZ, Mason S, et al.

Metabolomics : Official journal of the Metabolomic Society 2021; (17(1)):10 doi:10.1007/s11306-020-01769-w.

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Sharma R, Reinstadler B, Engelstad K, et al.

The Journal of clinical investigation 2021; (131(2)).

Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures.

Ewida A, Ahmed R, Luo A, et al.

Cureus 2021; (13(1)):e12908 doi:10.7759/cureus.12908.

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report.

Trang TM, Chien PC, Dung BT, et al.

Radiology case reports 2021; (16(7)):1865-1869 doi:10.1016/j.radcr.2021.04.049.

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

Li J, Zhang W, Cui Z, et al.

Frontiers in neurology 2021; (12()):675816 doi:10.3389/fneur.2021.675816.

Immunonutrition for the acute treatment of MELAS syndrome.

Pérez-Cruz E, González-Rivera C, Valencia-Olvera LDCG

Endocrinologia, diabetes y nutricion 2021; doi:10.1016/j.endinu.2021.03.004.

Mitochondrial Strokes: Diagnostic Challenges and Chameleons.

Pizzamiglio C, Bugiardini E, Macken WL, et al.

Genes 2021; (12(10)) doi:10.3390/genes12101643.

ECMO for Metabolic Crisis in a Patient with Mitochondrial Disease.

Sharma S, Deerman C, Andreae MH, Myler C

Case reports in anesthesiology 2021; (2021()):9914311 doi:10.1155/2021/9914311.

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

Fan HC, Lee HF, Yue CT, Chi CS

Life (Basel, Switzerland) 2021; (11(11)) doi:10.3390/life11111111.

Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report.

Al Yazidi G, Mulder J, Licht C, et al.

The Neurohospitalist 2022; (12(1)):67-73 doi:10.1177/19418744211000512.

Neurological manifestations in m.3243A>G-related disease triggered by metformin.

Tong HF, Lee HH, Tong TT, et al.

Journal of diabetes and its complications 2022; (36(3)):108111 doi:10.1016/j.jdiacomp.2021.108111.

Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.

Crundwell G, Kullar P, Bance M

The journal of international advanced otology 2022; (18(1)):71-73 doi:10.5152/iao.2022.21316.

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Seed LM, Dean A, Krishnakumar D, et al.

Molecular genetics & genomic medicine 2022; (10(7)):e1955 doi:10.1002/mgg3.1955.

Modeling Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming.

Povea-Cabello S, Villanueva-Paz M, Villalón-García I, et al.

Cellular reprogramming 2022; (24(5)):294-303 doi:10.1089/cell.2022.0055.

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population.

Zanotti S, Velardo D, Sciacco M

Metabolites 2022; (13(1)) doi:10.3390/metabo13010046.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome: a case report.

Ru YX, Ying L, Dong SX, et al.

Ultrastructural pathology 2023; (47(3)):227-235 doi:10.1080/01913123.2023.2184892.

Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.

Ürey BC, Ceylan AC, Çavdarlı B, et al.

Molecular syndromology 2023; (14(2)):171-174 doi:10.1159/000527538.

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.

Gaillard JR, Whitt Z, Selwa LM, et al.

Neurology 2023; (101(13)):588-592 doi:10.1212/WNL.0000000000207552.

Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.

Matsumoto S, Uchiumi T, Noda N, et al.

Laboratory medicine 2024; (55(2)):227-233 doi:10.1093/labmed/lmad063.

Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report.

Wang A, Zhao J, Zhao Y, Yan Y

European heart journal. Case reports 2023; (7(9)):ytad441 doi:10.1093/ehjcr/ytad441.

A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS.

Shin HJ, Na JH, Lee YM

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(5)):2337-2339 doi:10.1007/s10072-024-07343-9.

Gastrointestinal Complications of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome Managed By Parenteral Nutrition.

Horná S, Péč MJ, Krivuš J, et al.

European journal of case reports in internal medicine 2024; (11(2)):004268 doi:10.12890/2024_004268.

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge.

Acquaah J, Ferdinand P, Roffe C

BMJ case reports 2024; (17(2)) doi:10.1136/bcr-2023-256306.

A Case Report of a Clinically Suspected Diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome With Cardiac Impairment.

Momoh R, Kollamparambil S

Cureus 2024; (16(3)):e56980 doi:10.7759/cureus.56980.

Neovascular Glaucoma in MELAS syndrome.

Khanna S, Smith BT

American journal of ophthalmology case reports 2024; (34()):102064 doi:10.1016/j.ajoc.2024.102064.

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing.

Cai H, Li LM, Zhang M, et al.

Frontiers in genetics 2024; (15()):1367716 doi:10.3389/fgene.2024.1367716.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report.

Gunawardena K, Praveenan S, Dissanayake VHW, Ratnayake P

Journal of medical case reports 2024; (18(1)):420 doi:10.1186/s13256-024-04723-9.

Efficacy of a mitochondrial drug cocktail in preventing acute encephalopathy with biphasic seizures and late reduced diffusion.

Omata T, Aoyama H, Murayama K, et al.

Journal of the neurological sciences 2024; (466()):123245 doi:10.1016/j.jns.2024.123245.

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Büyükyılmaz G, İnözü M, Çavdarlı B

The Turkish journal of pediatrics 2024; (66(4)):490-498 doi:10.24953/turkjpediatr.2024.4702.

Effective Management of Chronic Intestinal Pseudo-Obstruction in MELAS Using Acotiamide: A Case Report.

Kawano Y, Taniguchi A, Narita Y, et al.

Case reports in neurology 2024; (16(1)):288-293 doi:10.1159/000541012.

Segmental and Focal Glomerulosclerosis Secondary to MELAS Syndrome and Long-Term Outcomes After Kidney Transplant: Case Report and Literature Review.

de Sousa MV, Mariani G, Ribeiro Alves MAVF, Mazzali M

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2025; (23(2)):146-150 doi:10.6002/ect.2025.0006.

Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.

Xu C, Dai S, Jiang H, et al.

Journal of neurology 2025; (272(4)):280 doi:10.1007/s00415-025-13009-z.

Acute Management of Neurological Events in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome: A Case Report.

Aladashvili Z, Rodriguez TB, Izquierdo-Pretel G

Cureus 2025; (17(5)):e83959 doi:10.7759/cureus.83959.

Diagnosing Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome in a Young Adult Female Patient With Seizures and Lactic Acidosis.

Sane IA, Gupte JR

Cureus 2025; (17(7)):e88031 doi:10.7759/cureus.88031.

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.

Liu XH, Shen X, Zhong YS

International journal of ophthalmology 2025; (18(9)):1770-1776 doi:10.18240/ijo.2025.09.19.

Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.

Stefanetti RJ, Charman SJ, Newman J, et al.

Brain communications 2025; (7(5)):fcaf342 doi:10.1093/braincomms/fcaf342.

Safe Use of Metformin in Mitochondrial Diabetes in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes: Insights From a Patient With m.3243A>G Mutation.

Santhosh T, Ramamurthy P, Simha V

AACE endocrinology and diabetes 2025; (12(3)):150-152 doi:10.1016/j.aed.2025.07.001.

Multiparametric MRI detection of cerebral metabolism: a tool for early differentiation between MELAS and ischemic cerebral infarction.

Yang X, Xu Y, Zhang S, et al.

Quantitative imaging in medicine and surgery 2025; (15(10)):9466-9478 doi:10.21037/qims-24-2396.

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Janiak J, Piątkowska W, Podlejska P, et al.

Acta neurologica Belgica 2025; doi:10.1007/s13760-025-02921-w.

Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.

Chu KY

Intractable & rare diseases research 2025; (14(4)):249-257 doi:10.5582/irdr.2025.01051.

Basic Science and Pathogenesis.

Mutyala S, Maali LN, Pasya SK

Alzheimer's & dementia : the journal of the Alzheimer's Association 2025; (21 Suppl 1()):e106536 doi:10.1002/alz70855_106536.

Approach to the Patient - Mitochondrial Diabetes: Contemporary Cases and Precision Medicine Approach.

Oppenheimer KR, Himelhoch NT, McCullough ME, et al.

The Journal of clinical endocrinology and metabolism 2025; doi:10.1210/clinem/dgaf698.

Fahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome.

Li J, Wang X, Guo Y, et al.

AACE endocrinology and diabetes 2026; (13(1)):102-106 doi:10.1016/j.aed.2025.09.007.

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.

Zhuang X, Wang J, Wang J, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(3)):264 doi:10.1007/s10072-026-08875-y.