Pharos: succinyl-CoA:3-ketoacid CoA transferase deficiency (1 associated targets)

Disease Summary

Associated Targets (1)

Tbio

1

GARD Rare

Mondo 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.

Uniprot Description

A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.

Mondo Term and Equivalent IDs

MONDO:0009492: succinyl-CoA:3-ketoacid CoA transferase deficiency

GARD:0004774:

MESH:C537527:

OMIM:245050: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY

Orphanet:832:

SCTID:238004006: