Succinyl-coa:3-oxoacid-coa transferase deficiency

Preferred Label : Succinyl-coa:3-oxoacid-coa transferase deficiency;

Symbol : SCOTD;

CISMeF acronym : SCOTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ketoacidosis due to scot deficiency; Succinyl-coa:3-ketoacid coa-transferase deficiency; Succinyl-coa:acetoacetate transferase deficiency; Scot deficiency;

Description : 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 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-oxoacid CoA transferase 1 gene (OXCT1, 601424.0001);

Laboratory abnormalities : Normal plasma amino acids; Normal lactate; Low-to-normal carnitine; Normal plasma glucose; Succinyl-CoA: 3-oxoacid-CoA transferase (SCOT) deficiency; Hyperketonemia (3-hydroxybutyrate and acetoacetate) (permanent between attacks); Ketonuria (3-hydroxybutyrate and acetoacetate) (permanent between attacks); Normal ammonia;

Prefixed ID : #245050;

Details

Origin ID

245050;

UMLS CUI

C0342792;

Currated CISMeF NLP mapping
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA acetoacetate transferase deficiency [ICD-11 More detail]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH Supplementary Concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
- Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- 3-oxoacid coa transferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated urinary 3-hydroxybutyric acid [HPO term]
- Episodic ketoacidosis [HPO term]
- Ketonuria [HPO term]
- Neonatal onset [HPO term]
- Polypnea [HPO term]
- Severe intermittent ketoacidosis [HPO term]
- Tachypnea [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA acetoacetate transferase deficiency [ICD-11 More detail]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH Supplementary Concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
- Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) [SNOMED CT concept]

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