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Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts

MedGen UID:
1054770
Concept ID:
CN376643
Finding
HPO: HP:6000134

Definition

Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts

Conditions with this feature

Alpha-methylacyl-CoA racemase deficiency
MedGen UID:
482058
Concept ID:
C3280428
Disease or Syndrome
AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).

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