KEGG   DISEASE: H01121Help
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
Inherited metabolic disease
BRITE hierarchy
Pathway
Synthesis and degradation of ketone bodies
Valine, leucine and isoleucine degradation
Butanoate metabolism
Gene
OXCT1 [HSA:5019] [KO:K01027]
Marker
High levels of ketones of blood and urea
Normal levels of blood glucose
Drug
Intravenous fluid therapy including glucose and sodium bicarbonate.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
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)
Reference
  Authors
Sass JO
  Title
Inborn errors of ketogenesis and ketone body utilization.
  Journal
J Inherit Metab Dis 35:23-8 (2012)

» Japanese version

DBGET integrated database retrieval system