Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
URI: https://gptkb.org/entity/Mitochondrial_Encephalomyopathy,_Lactic_Acidosis,_and_Stroke-like_episodes
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mitochondrial disease
|
| gptkbp:abbreviation |
gptkb:MELAS
|
| gptkbp:affects |
gptkb:nervous_system
brain muscles |
| gptkbp:causedBy |
gptkb:MT-TL1_gene_mutation
mitochondrial DNA mutation |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
|
| gptkbp:inheritance |
maternal
|
| gptkbp:OMIM |
540000
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prognosis |
progressive
|
| gptkbp:symptom |
gptkb:encephalopathy
vomiting headache muscle weakness hearing loss seizures lactic acidosis stroke-like episodes |
| gptkbp:treatment |
supportive care
anticonvulsants arginine |
| gptkbp:bfsParent |
gptkb:MELAS_syndrome
|
| gptkbp:bfsLayer |
7
|