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  2. Succinyl-CoA:3-oxoacid CoA transferase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Disease Export to PDF
Name:
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Description:
A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
ORPHAcode:
832
Synonyms:
OXCT1 deficiency
SCOT deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
OXCT1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14