Details of Disease | DrugMAP

General Information of Disease (ID: DIS0YEM9)

Disease Name	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Synonyms	SCOTD; Scot deficiency; succinyl-CoA:3-oxoacid-CoA transferase deficiency; ketoacidosis due to Scot deficiency; succinyl-Coa:3-ketoacid Coa-transferase deficiency; 3-oxoacid CoA transferase deficiency; succinyl-Coa:acetoacetate transferase deficiency; OXCT1 deficiency; SCOT deficiency; succinyl-CoA:3-oxoacid CoA transferase deficiency; succinyl-CoA:3-ketoacid CoA transferase deficiency; succinyl-CoA acetoacetate transferase deficiency; Succinyl CoA:3-oxoacid CoA transferase deficiency
Definition	Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Disease Hierarchy	DISCFQ1G: Inborn disorder of ketolysis DIS0YEM9: Succinyl-CoA:3-ketoacid CoA transferase deficiency
Disease Identifiers	MONDO ID MONDO_0009492 MESH ID C537527 UMLS CUI C0342792 OMIM ID 245050 MedGen ID 137979 Orphanet ID 832 SNOMED CT ID 238004006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OXCT1	OT536PE7	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Outcome for children with relapsed acute myeloid leukemia in the Netherlands following initial treatment between 1980 and 1998: survival after chemotherapy only?. Haematologica. 2008 Sep;93(9):1418-20. doi: 10.3324/haematol.12807.