|
gptkbp:instanceOf
|
gptkb:mitochondrial_disease
|
|
gptkbp:abbreviation
|
gptkb:Mitochondrial_Encephalomyopathy,_Lactic_Acidosis,_and_Stroke-like_episodes
|
|
gptkbp:affects
|
gptkb:nervous_system
muscles
multiple organs
|
|
gptkbp:category
|
gptkb:rare_disease
gptkb:neurometabolic_disorder
|
|
gptkbp:causedBy
|
mutations in mitochondrial DNA
mutations in nuclear DNA
|
|
gptkbp:diagnosedBy
|
MRI
genetic testing
muscle biopsy
lactate measurement
|
|
gptkbp:firstDescribed
|
1984
|
|
gptkbp:fullName
|
gptkb:Mitochondrial_Encephalomyopathy,_Lactic_Acidosis,_and_Stroke-like_episodes
|
|
gptkbp:hasOrphanetID
|
ORPHA:317
|
|
gptkbp:ICD-10_code
|
gptkb:G31.82
|
|
gptkbp:inheritance
|
maternal
|
|
gptkbp:mostCommonMutation
|
A3243G mutation in the MT-TL1 gene
|
|
gptkbp:OMIM
|
540000
|
|
gptkbp:onset
|
childhood
adolescence
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
progressive
variable
|
|
gptkbp:relatedTo
|
gptkb:Leigh_syndrome
gptkb:mitochondrial_myopathy
MERRF syndrome
|
|
gptkbp:symptom
|
gptkb:encephalopathy
vomiting
headache
short stature
muscle weakness
hearing loss
seizures
lactic acidosis
stroke-like episodes
|
|
gptkbp:treatment
|
gptkb:coenzyme_Q10
arginine
symptomatic management
L-carnitine
|
|
gptkbp:bfsParent
|
gptkb:MELAS_syndrome
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MELAS
|