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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease encephalopathy
Symptom C0001125|lactic acidosis
Sentences 19
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.
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- 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- 24156228 D-lactic acidosis: an unusual cause of encephalopathy in a patient with short bowel syndrome.
PubMedID- 24656211 Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) may respond to adjunctive ketogenic diet.
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- 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- 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- 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- 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- 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- 21712670 On second admission, she had acute encephalopathy with lactic acidosis and bilateral basal ganglia and brainstem lesions.
PubMedID- PMC4328573 Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes - melas) this aspect was also evaluated.
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- 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- 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 .

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