KEGG   DISEASE: Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
Entry
H01121                      Disease                                

Name
Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
Description
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency of SCOT activity inhibits peripheral ketone body utilization and causes episodes of severe ketoacidosis.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01121  Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H01121  Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
Related
pathway
hsa00072  Synthesis and degradation of ketone bodies
hsa00280  Valine, leucine and isoleucine degradation
hsa00650  Butanoate metabolism
Gene
OXCT1 [HSA:5019] [KO:K01027]
Other DBs
ICD-11: 5C52.02
ICD-10: E71.3
MeSH: C537527
OMIM: 245050
Reference
  Authors
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N
  Title
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
  Journal
Biochim Biophys Acta 1812:619-24 (2011)
DOI:10.1016/j.bbadis.2011.01.015
Reference
PMID:9392403
  Authors
Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP
  Title
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
  Journal
Eur J Pediatr 156:870-3 (1997)
DOI:10.1007/s004310050733
Reference
  Authors
Sass JO
  Title
Inborn errors of ketogenesis and ketone body utilization.
  Journal
J Inherit Metab Dis 35:23-8 (2012)
DOI:10.1007/s10545-011-9324-6

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