U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...