Succinyl-CoA acetoacetate transferase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. (Orphanet Rare Disease Ontology, Orphanet_832)
External Link http://www.omim.org/entry/245050
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Genes

1 genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
OXCT1 3-oxoacid CoA transferase 1