KEGG   DISEASE: Leigh syndromeHelp
Entry
H01354                      Disease                                

Name
Leigh syndrome
  Subgroup
Leigh syndrome, French-Canadian type (LSFC)
  Supergrp
Mitochondrial disease [DS:H01427]
Description
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.
Category
Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease
Brite
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
Pathway
hsa00190  Oxidative phosphorylation
hsa00620  Pyruvate metabolism
Gene
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
Reference
  Authors
Finsterer J
  Title
Leigh and Leigh-like syndrome in children and adults.
  Journal
Pediatr Neurol 39:223-35 (2008)
DOI:10.1016/j.pediatrneurol.2008.07.013
Reference
  Authors
Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
  Title
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
  Journal
Eur J Hum Genet 19:270-4 (2011)
DOI:10.1038/ejhg.2010.204
Reference
  Authors
Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S
  Title
Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
  Journal
Sleep Breath 17:1129-35 (2013)
DOI:10.1007/s11325-013-0816-5
Reference
  Authors
Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
  Title
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
  Journal
Nat Genet 41:833-7 (2009)
DOI:10.1038/ng.390
LinkDB All DBs

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