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Mitochondrial encephalomyopathy

MedGen UID:
57960
•Concept ID:
C0162666
•
Disease or Syndrome
Synonyms: Encephalomyopathies, Mitochondrial; Encephalomyopathy, Mitochondrial; Mitochondrial Encephalomyopathies; Mitochondrial Encephalomyopathy
SNOMED CT: Mitochondrial encephalomyopathy (447292006); Mitochondrial myoencephalopathy (447292006)
 
Monarch Initiative: MONDO:0004675
OMIM®: 516020; 590005; 590050; 590055; 590095

Definition

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial encephalomyopathy

Professional guidelines

PubMed

Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.
Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A
Genes (Basel) 2020 Dec 31;12(1) doi: 10.3390/genes12010054. PMID: 33396418Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523

Recent clinical studies

Etiology

Primary mitochondrial diseases.
Pizzamiglio C, Hanna MG, Pitceathly RDS
Handb Clin Neurol 2024;204:53-76. doi: 10.1016/B978-0-323-99209-1.00004-1. PMID: 39322395
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S, Erfanian Omidvar M, Tabasinezhad M, Alipoor B, Salmani TA, Ghaedi H
Mol Biol Rep 2020 Dec;47(12):9699-9714. Epub 2020 Nov 23 doi: 10.1007/s11033-020-05999-y. PMID: 33230783
Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome.
Fayssoil A
Congest Heart Fail 2009 Nov-Dec;15(6):284-7. doi: 10.1111/j.1751-7133.2009.00108.x. PMID: 19925507

Diagnosis

Mitochondrial encephalomyopathy.
Ng YS, McFarland R
Handb Clin Neurol 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. PMID: 37562887
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.
Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Therapy

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK
J Clin Invest 2021 Jan 19;131(2) doi: 10.1172/JCI136055. PMID: 33463549Free PMC Article
Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review.
Rashid J, Kumar SS, Job KM, Liu X, Fike CD, Sherwin CMT
Paediatr Drugs 2020 Jun;22(3):279-293. doi: 10.1007/s40272-020-00384-5. PMID: 32140997Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Arginine extravasation leading to skin necrosis.
Abraham MB, van der Westhuyzen J, Khanna V
J Paediatr Child Health 2012 Mar;48(3):E96-7. Epub 2011 Apr 29 doi: 10.1111/j.1440-1754.2011.02074.x. PMID: 21535285

Prognosis

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge.
Acquaah J, Ferdinand P, Roffe C
BMJ Case Rep 2024 Feb 26;17(2) doi: 10.1136/bcr-2023-256306. PMID: 38413140Free PMC Article
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry.
Kondo H, Fujita Y, Mizuno Y, Kihara M, Murayama K
Pediatr Int 2018 Mar;60(3):300-302. Epub 2018 Feb 26 doi: 10.1111/ped.13472. PMID: 29480536
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome.
Kwon OY, Lim SG, Park SH
Am J Emerg Med 2014 Aug;32(8):951.e1-2. Epub 2014 Feb 10 doi: 10.1016/j.ajem.2014.01.059. PMID: 24655600
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical prediction guides

Leucine Rich Repeat Proteins: Sequences, Mutations, Structures and Diseases.
Matsushima N, Takatsuka S, Miyashita H, Kretsinger RH
Protein Pept Lett 2019;26(2):108-131. doi: 10.2174/0929866526666181208170027. PMID: 30526451
Pathology of mitochondria in MELAS syndrome: an ultrastructural study.
Felczak P, Lewandowska E, Stępniak I, Ołdak M, Pollak A, Lechowicz U, Pasennik E, Stępień T, Wierzba-Bobrowicz T
Pol J Pathol 2017;68(2):173-181. doi: 10.5114/pjp.2017.65021. PMID: 29025253
Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy.
Mamedov I, Zolkina I, Nikolaeva E, Glagovsky P, Sukhorukov V
J Pediatr Endocrinol Metab 2015 Nov 1;28(11-12):1299-304. doi: 10.1515/jpem-2015-0193. PMID: 26197467
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Recent systematic reviews

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S, Erfanian Omidvar M, Tabasinezhad M, Alipoor B, Salmani TA, Ghaedi H
Mol Biol Rep 2020 Dec;47(12):9699-9714. Epub 2020 Nov 23 doi: 10.1007/s11033-020-05999-y. PMID: 33230783

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