KEGG DISEASE: Leigh syndrome

KEGG

DISEASE: Leigh syndrome

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 [DS:H00473 H02005 H02086 H01368] or of the pyruvate dehydrogenase complex [DS:H00073] are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial.

Category

Inherited metabolic disorder, Mitochondrial disease

Brite

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

Pathway

Oxidative phosphorylation

Gene

(LSFC) LRPPRC [HSA:10128] [KO:K17964]
(MILS) MTTV [HSA:4577] [KO:K14237]
(MILS) MTTK [HSA:4566] [KO:K14229]
(MILS) MTTW [HSA:4578] [KO:K14235]
(MILS) MTTL1 [HSA:4567] [KO:K14228]
(MILS) MTATP6 [HSA:4508] [KO:K02126]

Other DBs

ICD-11:

MeSH:

OMIM:

256000 220111 500017

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

Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM

Title

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

Journal

Ann Neurol 40:25-30 (1996)
DOI:10.1002/ana.410400107

Reference

PMID:21266382 (LSFC)

Authors

Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA

Title

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

Journal

J Med Genet 48:183-9 (2011)
DOI:10.1136/jmg.2010.081976

Reference

PMID:11799391 (MTTV)

Authors

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM

Title

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Journal

Nat Genet 30:145-6 (2002)
DOI:10.1038/ng819

Reference

PMID:24374964 (MTTK)

Authors

Buda P, Piekutowska-Abramczuk D, Karkucinska-Wieckowska A, Jurkiewicz E, Chelstowska S, Pajdowska M, Migdal M, Ksiazyk J, Kotulska K, Pronicka E

Title

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

Journal

Folia Neuropathol 51:347-54 (2013)
DOI:10.5114/fn.2013.39726

Reference

PMID:9266739 (MTTW)

Authors

Santorelli FM, Tanji K, Sano M, Shanske S, El-Shahawi M, Kranz-Eble P, DiMauro S, De Vivo DC

Title

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

Journal

Ann Neurol 42:256-60 (1997)
DOI:10.1002/ana.410420220

Reference

PMID:17352390 (MTATP6)

Authors

Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH

Title

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Journal

Am J Med Genet A 143A:808-16 (2007)
DOI:10.1002/ajmg.a.31637

LinkDB

» Japanese version

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