PedAM
Pediatric Disease Annotations & Medicines
| Disease | lactic acidosis |
| Phenotype | C0162666|mitochondrial encephalomyopathy |
| Sentences | 15 |
| PubMedID- 21724600 | The m.3243a>g mutation in the mitochondrial dna (mtdna) mt-tl1 gene coding for mitochondrial trnaleu(uur) (mt-trnaleu(uur)) was first identified as a genetic cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas, mim 5400 000) (1). |
| 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- 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- 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- 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- 21076841 | Carotid dissection in 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- 23429336 | mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) syndrome. |
| 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- 23273904 | Although point mutations have been identified in each of the 22 mt-trnas, mttl1 – the gene encoding for the mt-trnaleu(uur) – is a particularly well-known hotspot for pathogenic point mutations; most notably the m.3243a > g and m.3271t > c mutations which are linked to the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode (melas) syndrome [2–4]. |
| 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- 24828681 | mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) in the older adult. |
| PubMedID- 26261593 | Mitochondrial genetic analysis in a chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. |
| PubMedID- 22086148 | Idebenone did not prove useful in coq10 deficiencies [4]; yet, due to its redox properties and the evidence that it can mediate electron transfer to respiratory chain complex iii in isolated mitochondria [1,8–12], idebenone has been used in several diseases associated to respiratory chain dysfunction like leber's hereditary optic neuropathy (lhon) [13–17], mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) [18–20], leigh syndrome [21], friedreich's ataxia [6,7,22,23], as well as huntington's [24] and alzheimer disease [25–28]. |
| 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. |
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