Succinyl-CoA:3-ketoacid CoA transferase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: KETOACIDOSIS DUE TO SCOT DEFICIENCY
Succinyl-CoA acetoacetate transferase deficiency
SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY
SUCCINYL-CoA:ACETOACETATE TRANSFERASE DEFICIENCY
Succinyl-CoA:3-oxoacid CoA transferase deficiency
OXCT1 deficiency
scot deficiency
Number of Symptoms 5
OrphanetNr: 832
OMIM Id: 245050
ICD-10: E71.3
UMLs:
MeSH:
MedDRA:
Snomed: 238004006

Prevalence, inheritance and age of onset:

Prevalence: 33 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of ketone body metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002919) Ketonuria 18 / 7739
2
(HPO:0002013) Vomiting 191 / 7739
3
(HPO:0005974) Episodic ketoacidosis 4 / 7739
4
(HPO:0002789) Tachypnea 48 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Fukao et al. (1996) described prenatal diagnosis of SCOT deficiency in a fetus whose sib represented the first case of SCOT deficiency identified in Japan (Sakazaki et al., 1995). In the fetus, SCOT activity was not detected in ...
Clinical Description OMIM By study of cultured fibroblasts and postmortem tissue from a black male infant who died at age 6 months from severe intermittent ketoacidosis, Tildon and Cornblath (1972) found no measurable succinyl-CoA:3-ketoacid CoA-transferase activity. Other causes of ketoacidosis in ...
Molecular genetics OMIM To screen for mutations in the patient reported by Perez-Cerda et al. (1992), they amplified and cloned cDNA fragments containing the entire OXCT coding sequence from the patient and her consanguineous parents. They found the patient to be ...