PedAM
Pediatric Disease Annotations & Medicines
| Disease | lactic acidosis |
| Symptom | C0085584|encephalopathy |
| Sentences | 24 |
| 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- 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- 23439654 | Examples include kearn-sayre syndrome, mitochondrial encephalopathy with lactic acidosis and seizure-like episodes (melas), and leber hereditary optic neuropathy (lhon). |
| 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- 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- 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- 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- 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- 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- 24656211 | Background: mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (melas) syndrome can present management challenges. |
| 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- 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- 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- 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- 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- 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- 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- PMC4328573 | Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes - melas) this aspect was also evaluated. |
| 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- 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- 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. |
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