Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts

MedGen UID:: 1052113
•Concept ID:: CN375675
•: Finding

HPO:	HP:4000204

Definition

Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal tissue enzyme concentration or activity
      - Abnormal enzyme activity in cultured fibroblasts
        Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts

Conditions with this feature

Deficiency of acetyl-CoA acetyltransferase

MedGen UID:: 280689
•Concept ID:: C1536500
•: Disease or Syndrome

Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.

See: Condition Record

Deficiency of acetyl-CoA acetyltransferase