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Succinyl-CoA:3-oxoacid CoA transferase deficiency

MeSH: C537527ORPHA: 832

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Succinyl-CoA:3-oxoacid CoA transferase deficiency, sourced from HPO and Orphanet clinical annotations.

KetoacidosisReduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblastsVomitingTachypneaKetonuriaHyperketonemiaHypotoniaLethargyComaFailure to thrive in infancyCardiomegalyDehydrationNauseaDecreased body weight

Classification & Codes

MeSH Code

C537527

Orphanet Code

ORPHA:832
Succinyl-CoA:3-oxoacid CoA transferase deficiency
MeSHC537527
OrphanetORPHA:832
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO