Leigh syndrome

GPTKB entity

Statements (53)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
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 rare disease
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
https://www.w3.org/2000/01/rdf-schema#label Leigh syndrome
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
gptkb:succinate_dehydrogenase
gptkbp:bfsLayer 6