MELAS syndrome

Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes
Basal ganglia calcification, cerebellar atrophy, increased lactate; a CT image of a person diagnosed with MELAS
SpecialtyNeurology Edit this on Wikidata
Frequency1 in 4000[1]

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984.[2] A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent.[3] The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G.

  1. ^ Pia S, Lui F (2020). "Melas Syndrome". Statpearls. Treasure Island (FL): StatPearls Publishing. PMID 30422554. Text was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.
  2. ^ Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (October 1984). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome". Annals of Neurology. 16 (4): 481–488. doi:10.1002/ana.410160409. PMID 6093682. S2CID 41412358.
  3. ^ Hirano M, Pavlakis SG (January 1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts". Journal of Child Neurology. 9 (1): 4–13. doi:10.1177/088307389400900102. PMID 8151079. S2CID 31329972.