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Succinyl-CoA:3-ketoacid CoA transferase deficiency
rareSuccinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
- Identifiers
- MONDO:0009492 OMIM:245050Orphanet:832
- Causal genes
- OXCT1
- Part of
- Inborn disorder of ketolysis
- Also known as
- 3-oxoacid CoA transferase deficiency · OXCT1 deficiency · SCOT deficiency · SCOTD · Succinyl CoA:3-oxoacid CoA transferase deficiency
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