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Succinyl-CoA acetoacetate transferase deficiency(SCOTD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: 3-Oxoacid CoA Transferase Deficiency; SCOTD; SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY; Succinyl-CoA:3-oxoacid CoA transferase deficiency
SNOMED CT: Succinyl-coenzyme A acetoacetate transferase deficiency (238004006); Succinyl-CoA acetoacetate transferase deficiency (238004006); Succinyl-CoA 3-ketoacid transferase deficiency (238004006); 3-Ketoacid CoA transferase deficiency (238004006); Thioacyl transferase deficiency (238004006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): OXCT1 (5p13.1)
Monarch Initiative: MONDO:0009492
OMIM®: 245050
Orphanet: ORPHA832


Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate. [from OMIM]

Additional description

From MedlinePlus Genetics
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats.

The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks.

People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.  https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency

Clinical features

From HPO
MedGen UID:
Concept ID:
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Elevated urinary 3-hydroxybutyric acid
MedGen UID:
Concept ID:
An increased amount of 3-hydroxybutyric acid in the urine.
MedGen UID:
Concept ID:
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
MedGen UID:
Concept ID:
Very rapid breathing.
Episodic ketoacidosis
MedGen UID:
Concept ID:
Intermittent episodes of ketoacidosis.
Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts
MedGen UID:
Concept ID:
Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC below the lower limit of normal in cultured fibroblasts.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSuccinyl-CoA acetoacetate transferase deficiency
Follow this link to review classifications for Succinyl-CoA acetoacetate transferase deficiency in Orphanet.

Recent clinical studies


Rolland MO, Guffon N, Mandon G, Divry P
J Inherit Metab Dis 1998 Aug;21(6):687-8. doi: 10.1023/a:1005453105414. PMID: 9762611
Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP
Eur J Pediatr 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733. PMID: 9392403


Barić I, Sarnavka V, Fumić K, Maradin M, Begović D, Ruiter JP, Wanders RJ
J Inherit Metab Dis 2001 Feb;24(1):81-2. doi: 10.1023/a:1005671109585. PMID: 11286388

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