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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mitochondrial encephalomyopathy
Symptom C0001125|lactic acidosis
Sentences 14
PubMedID- 25695052 These may cause discrete clinical syndrome, such as the kearns-sayre syndrome (kss), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas), chronic progressive external ophthalmoplegia (cpeo), myoclonic epilepsy with ragged-red fibers (merrf), and neurogenic weakness .
PubMedID- 20362514 Pathogenetic mutations of mtdna cause a maternally inherited mitochondrial disease characterised by stroke-like episodes (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) associated with biochemical and structural abnormalities of the cerebral vasculature.8 patients carrying specific mtdna point mutations are prone to stroke in the occipital regions.
PubMedID- 23429336 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) syndrome.
PubMedID- 23230016 Maternally inherited diabetes and deafness (midd) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) are different syndromes, but are caused by the same m.3243a>g mutation in mitochondrial dna.
PubMedID- 23527980 Objective: to delineate the characteristics of the clinical manifestation, pathology of skeletal muscle and gene mutations of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode (melas) in children.
PubMedID- 24828681 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) in the older adult.
PubMedID- 21724600 The m.3243a>g mutation was described as the major cause of the melas syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes).
PubMedID- 24708134 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/leigh (melas/ls) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (mri) features that are characteristic of both melas and leigh syndrome (ls).
PubMedID- 24745891 The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, krabbe or globoid cell leukodystrophy, fabry, niemann-pick, gm1, gm2, gaucher, mucopolysaccharidoses, and salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, myoclonic epilepsy with ragged red fibers, leigh disease, and kearns-sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or pelizaeus merzbacher, wilson, and huntington diseases), and several neurodegenerative disorders of brain iron accumulation.
PubMedID- 26261593 To investigate the mitochondrial mutations in patients suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) and maternally inherited diabetes.
PubMedID- 21076841 Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
PubMedID- 25125337 The acronym "melas" (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) denotes patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes.
PubMedID- 20111601 Fad and flavin mononucleotide (fmn) are cofactors derived from riboflavin, a water-soluble vitamin that have been used in the treatment of several mitochondrial disorders such as complex i deficiency , short-chain acyl coenzyme a dehydrogenase (scad) , mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) syndrome , l-2-hydroxyglutaric aciduria , and in complex ii deficiency .
PubMedID- 22086148 Idebenone did not prove useful in coq10 deficiencies , idebenone has been used in several diseases associated to respiratory chain dysfunction like leber's hereditary optic neuropathy (lhon) , mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) , leigh syndrome , friedreich's ataxia , as well as huntington's and alzheimer disease .

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