KEGG   DISEASE: Mitochondrial complex II deficiencyHelp
Entry
H02005                      Disease                                

Name
Mitochondrial complex II deficiency;
Succinate dehydrogenase deficiency;
Succinate CoQ reductase deficiency
  Supergrp
Diseases of the tricarboxylic acid cycle [DS:H01022]
Mitochondrial disease [DS:H01427]
Mitochondrial disease [DS:H01427]
Description
Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport chain (ETC). Four structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded. Mutations in SDHA, SDHD, and SDHAF1 have been found in patients. CII deficiency has a variable phenotype. Brain imaging is abnormal in majority of the patients and consists of leukoencephalopathy, Leigh syndrome or cerebellar atrophy.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H02005  Mitochondrial complex II deficiency
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
     H02005  Mitochondrial complex II deficiency
BRITE hierarchy
Pathway
hsa00020  Citrate cycle (TCA cycle)
hsa00190  Oxidative phosphorylation
Gene
SDHA [HSA:6389] [KO:K00234]
SDHD [HSA:6392] [KO:K00237]
SDHAF1 [HSA:644096] [KO:K18167]
Other DBs
ICD-11: 5C53.2Y
ICD-10: E88.4
MeSH: C565375
OMIM: 252011
Reference
  Authors
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J
  Title
Complex II deficiency--a case report and review of the literature.
  Journal
Am J Med Genet A 161A:285-94 (2013)
DOI:10.1002/ajmg.a.35714
Reference
  Authors
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
  Title
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 49:569-77 (2012)
DOI:10.1136/jmedgenet-2012-101146
Reference
  Authors
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
  Title
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 51:170-5 (2014)
DOI:10.1136/jmedgenet-2013-101932
Reference
  Authors
Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M
  Title
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
  Journal
Nat Genet 41:654-6 (2009)
DOI:10.1038/ng.378
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system