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Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts

MedGen UID:
1053146
•Concept ID:
CN376957
•
Finding
HPO: HP:6000361

Definition

Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts

Conditions with this feature

Succinyl-CoA acetoacetate transferase deficiency
MedGen UID:
137979
•Concept ID:
C0342792
•
Disease or Syndrome
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.
See: Condition Record
Succinyl-CoA acetoacetate transferase deficiency

Recent clinical studies

Diagnosis

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ
J Inherit Metab Dis 2001 Oct;24(5):587-95. doi: 10.1023/a:1012419911789. PMID: 11757586

Therapy

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ
J Inherit Metab Dis 2001 Oct;24(5):587-95. doi: 10.1023/a:1012419911789. PMID: 11757586

Clinical prediction guides

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ
J Inherit Metab Dis 2001 Oct;24(5):587-95. doi: 10.1023/a:1012419911789. PMID: 11757586

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