/succinyl-CoA:3-ketoacid CoA transferase deficiency

succinyl-CoA:3-ketoacid CoA transferase deficiency

Rare Disease

MONDO:0009492

Also Known As

OXCT1 deficiencySCOT deficiencySuccinyl CoA:3-oxoacid CoA transferase deficiencysuccinyl-CoA acetoacetate transferase deficiencysuccinyl-CoA:3-ketoacid CoA transferase deficiencysuccinyl-CoA:3-oxoacid CoA transferase deficiency3-oxoacid CoA transferase deficiencySCOTDScot deficiencyketoacidosis due to Scot deficiencysuccinyl-CoA:3-oxoacid-CoA transferase deficiencysuccinyl-Coa:3-ketoacid Coa-transferase deficiencysuccinyl-Coa:acetoacetate 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.

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Associated Genes

OXCT1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

beta-ketothiolase deficiency

MONDO:0008760

Rare

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