KEGG   DISEASE: Leigh syndromeHelp
H01354                      Disease                                

Leigh syndrome
Leigh syndrome, French-Canadian type (LSFC)
Mitochondrial disease [DS:H01427]
Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial.
Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01354  Leigh syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01354  Leigh syndrome
BRITE hierarchy
hsa00190  Oxidative phosphorylation
hsa00620  Pyruvate metabolism
NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA2 [HSA:4695] [KO:K03946]
NDUFA9 [HSA:4704] [KO:K03953]
NDUFA10 [HSA:4705] [KO:K03954]
NDUFA12 [HSA:55967] [KO:K11352]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF6 [HSA:137682] [KO:K18163]
FOXRED1 [HSA:55572] [KO:K18166]
SDHA [HSA:6389] [KO:K00234]
COX10 [HSA:1352] [KO:K02257]
COX15 [HSA:1355] [KO:K02259]
SURF1 [HSA:6834] [KO:K14998]
BCS1L [HSA:617] [KO:K08900]
TACO1 [HSA:51204] [KO:K18189]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
Other DBs
ICD-11: 5C53.24
ICD-10: G31.8
MeSH: D007888
OMIM: 256000 220111
Finsterer J
Leigh and Leigh-like syndrome in children and adults.
Pediatr Neurol 39:223-35 (2008)
Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Eur J Hum Genet 19:270-4 (2011)
Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S
Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
Sleep Breath 17:1129-35 (2013)
Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nat Genet 41:833-7 (2009)
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