KEGG   DISEASE: Mitochondrial complex II deficiency
H02005                      Disease                                
Mitochondrial complex II deficiency;
Succinate dehydrogenase deficiency;
Succinate CoQ reductase deficiency
Diseases of the tricarboxylic acid cycle [DS:H01022]
Mitochondrial disease [DS:H01427]
Mitochondrial disease [DS:H01427]
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.
Congenital disorder of metabolism; Mitochondrial disease
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
hsa00020  Citrate cycle (TCA cycle)
hsa00190  Oxidative phosphorylation
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(MC2DN2) SDHAF1 [HSA:644096] [KO:K18167]
(MC2DN3) SDHD [HSA:6392] [KO:K00237]
(MC2DN4) SDHB [HSA:6390] [KO:K00235]
Other DBs
ICD-11: 5C53.2Y
ICD-10: E88.4
MeSH: C565375
OMIM: 252011 619166 619167 619224
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J
Complex II deficiency--a case report and review of the literature.
Am J Med Genet A 161A:285-94 (2013)
PMID:22972948 (SDHA SDHB)
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
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
J Med Genet 49:569-77 (2012)
PMID:19465911 (SDHAF1)
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
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Nat Genet 41:654-6 (2009)
PMID:24367056 (SDHD)
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
J Med Genet 51:170-5 (2014)

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