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Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity

MedGen UID:
1054788
Concept ID:
CN376728
Finding
Synonym: 3-hydroxyisobutyryl-CoA hydrolase deficiency
 
HPO: HP:6000215

Definition

The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity

Conditions with this feature

Beta-hydroxyisobutyryl-CoA deacylase deficiency
MedGen UID:
83349
Concept ID:
C0342738
Disease or Syndrome
3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013).

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