|
gptkbp:instanceOf
|
gptkb:neurodegenerative_disease
gptkb:mitochondrial_disease
|
|
gptkbp:affects
|
gptkb:basal_ganglia
central nervous system
mitochondria
brainstem
|
|
gptkbp:alsoKnownAs
|
gptkb:subacute_necrotizing_encephalomyelopathy
|
|
gptkbp:associatedWith
|
gptkb:NDUFS1
gptkb:NDUFV1
gptkb:COX10
gptkb:MT-ATP6
gptkb:PDHA1
gptkb:SURF1
|
|
gptkbp:category
|
gptkb:rare_disease
gptkb:neurometabolic_disorder
|
|
gptkbp:cause
|
mutations in mitochondrial DNA
mutations in nuclear DNA
|
|
gptkbp:diagnosedBy
|
MRI
genetic testing
blood lactate measurement
|
|
gptkbp:firstDescribed
|
gptkb:Denis_Leigh
1951
|
|
gptkbp:frequency
|
1 in 40,000 live births
|
|
gptkbp:hasOrphanetID
|
gptkb:ORPHA:166
|
|
gptkbp:ICD-10_code
|
gptkb:G31.82
|
|
gptkbp:inheritance
|
X-linked recessive
autosomal recessive
mitochondrial inheritance
|
|
gptkbp:MeSH_ID
|
gptkb:D020152
|
|
gptkbp:mortalityRate
|
high
|
|
gptkbp:OMIM
|
256000
|
|
gptkbp:onset
|
infancy
early childhood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:symptom
|
hypotonia
seizures
failure to thrive
ataxia
lactic acidosis
psychomotor regression
respiratory abnormalities
|
|
gptkbp:treatment
|
gptkb:biotin
gptkb:coenzyme_Q10
gptkb:thiamine
supportive care
vitamin supplementation
|
|
gptkbp:bfsParent
|
gptkb:Cluster_II
gptkb:P00441
gptkb:Mitochondrial_Complex_I_protein
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Leigh syndrome
|