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PedAM

Pediatric Disease Annotations & Medicines




Disease encephalopathy
Symptom C0001125|lactic acidosis
Sentences 24
PubMedID- 25988014 The acronym melas (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults.
PubMedID- 26180605 Nine patients were newly diagnosed as having mitochondrial disease : eight patients had mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas), and were confirmed to have the mitochondrial dna 3243 point mutation.
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- 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 .
PubMedID- 24656211 Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) may respond to adjunctive ketogenic diet.
PubMedID- 26196390 Idebenone is currently being investigated for the treatment of a number of mitochondrial and neuromuscular diseases, such as friedreich’s ataxia (frda), mitochondrial encephalopathy with lactic acidosis and stroke-like episode (melas) and duchenne muscular dystrophy (dmd), due to its ability to serve as an electron carrier in the mitochondrial electron transport chain and its powerful antioxidant activity.
PubMedID- 24014394 The role of lyrm7 in maturation/incorporation of the rieske protein in ciii explains the specific biochemical phenotype and the severe, early onset encephalopathy with lactic acidosis found in our patient, who carried a disease-segregating homozygous missense mutation in lyrm7, affecting a highly conserved amino-acid residue.
PubMedID- 23439654 Examples include kearn-sayre syndrome, mitochondrial encephalopathy with lactic acidosis and seizure-like episodes (melas), and leber hereditary optic neuropathy (lhon).
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- 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- 24156228 D-lactic acidosis: an unusual cause of encephalopathy in a patient with short bowel syndrome.
PubMedID- 21712670 On second admission, she had acute encephalopathy with lactic acidosis and bilateral basal ganglia and brainstem lesions.
PubMedID- 23263669 One of the most devastating phenotypes of mitochondrial diseases is melas, mitochondrial encephalopathy with lactic acidosis and stroke like syndrome, which affects children and adults, with episodes that are very similar to strokes.
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 .
PubMedID- 26001801 Cardiac abnormalities ranging from preexcitation, conduction blocks and arrhythmias to dilated or hypertrophic cardiomyopathy phenotypes have been described in several syndromes like chronic progressive external ophthalmoplegia (cpeo), kearns-sayre syndrome (kss), mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas), myoclonic epilepsy with ragged-red fibers (merrf) and leigh syndrome.
PubMedID- 23365789 Mutations in mitochondrial dna are responsible for a spectrum of mitochondrial encephalomyopathies, including mitochondrial encephalopathy with lactic acidosis and stroke like episodes.
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- 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- PMC4328573 Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes - melas) this aspect was also evaluated.
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- 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 .
PubMedID- 23589190 This phenomenon has been demonstrated experimentally in animals treated with a mitochondrial toxin , and has been observed in humans with reversible neuronal injury and dysfunction due to focal inflammatory lesions in ms and mitochondrial encephalopathy associated with lactic acidosis and strokes 5.
PubMedID- 22142326 Pyruvate dehydrogenase complex (pdhc) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal encephalopathy with lactic acidosis; (2) an early infantile form, which (3) at times resembles leigh syndrome; and (4) a later-onset form.
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.

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