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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mitochondrial encephalomyopathy
Comorbidity C0001125|lactic acidosis
Sentences 28
PubMedID- 25988014 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) was deemed a likely explanation for his multi-systemic disease and was confirmed by demonstration of the 3243a>g transition in blood and urine.
PubMedID- 26261593 Mitochondrial genetic analysis in a chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
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- 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- 24656211 Background: mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) syndrome can present management challenges.
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 [36], short-chain acyl coenzyme a dehydrogenase (scad) [37], mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) syndrome [38], l-2-hydroxyglutaric aciduria [39], and in complex ii deficiency [40].
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 [12].
PubMedID- 22516515 Hypoperfusion on single-photon emission computed tomography (spect) of the stroke-like lesion (sll) at the hyperacute stage of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) is considered to be a supportive evidence of the mitochondrial angiopathy theory.
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- 21076841 Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
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- 23429336 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) syndrome.
PubMedID- 24828681 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) in the older adult.
PubMedID- 24375076 The m.3243a>g "melas" (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the mitochondrial dna, but its phenotypic variability is incompletely understood.
PubMedID- 21518340 We present a family affected by the mitochondrial m.13513g>a (p.d393n, nd5) mutation, illustrating a previously unreported degree of clinical heterogeneity, varying from mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) in a 10-year-old female, to a fatal neonatal course with metabolic acidosis and hypotonia in a younger sister, to absence of medical problems in the mother.
PubMedID- 23263669 Supplementation of l-arginine has been used to treat melas (mitochondrial encephalopathy with lactic acidosis and stroke like syndrome), a mitochondrial disease caused by the m.3243a>g mutation.
PubMedID- 24413190 Http://www.mitomap.org, 2013, and http://www.ncbi.nlm.nih.gov/pubmed/21935892), and are responsible for a wide range of syndromes, such as the severe mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) for which no effective treatment is available at present.
PubMedID- 21339825 Heritable disorders involving complex i include myopathies, parkinson's disease, mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (melas), and leber's hereditary optic neuropathy (lhon) [3].
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- 19496942 Up to now diffuse white matter demyelination of the cerebrum has been reported in only a few cases of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas).
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- 25956993 Fabry’s disease and mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) are both cerebral small-vessel diseases with a high risk of stroke and cognitive decline [69].
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- PMC4328573 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes - melas) this aspect was also evaluated.
PubMedID- 21470425 This mutation typically causes mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) and has also been associated with developmental delay and seizures and maternally inherited progressive external ophthalmoplegia [11].
PubMedID- 24153443 Results: occurrence of a typical melas (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome in a single member of a large pedigree with episodic weakness associated with a later-onset distal motor neuropathy led to the disclosure of 2 deleterious mitochondrial dna mutations.
PubMedID- 24605570 [case report; mitochondrial encephalo-myopathy with lactic acidosis and stroke-like episodes (melas) diagnosed incidentally by asymptomatic cardiomegaly].
PubMedID- 23730257 Partial seizures are also frequently noticed in mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) syndrome, which is associated with mutations in the mitochondrial trnaleu gene [44, 45].

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