OnlineIMD
Succinyl-CoA:3-oxoacid-CoA transferase deficiency
(SCOT deficiency)
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
OXCT1
/ 3-oxoacid CoA transferase 1
5p13.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
3-oxoacid CoA transferase 1, mitochondrial
Pathway
Ketone body metabolism
Disease group(s)
4.3 Disorders of ketone body metabolism