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GENATLAS PHENOTYPE
last update : 28-01-2012
Symbol AMACRD
Location 5p13.3
Name alpha-methylacyl-CoA racemase deficiency
Corresponding gene AMACR
Main clinical features
  • peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems
  • relapsing encephalopathy, with seizures, ataxia and dysarthria, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging that may be associated with a retinitis pigmentosa
  • associated with elevated plasma concentrations of pristanic acid and C27-bile-acid intermediates,
  • Genetic determination not applicable
    autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    neurology
    eye
    Type disease
    Gene product
    Name alpha-methylacyl-CoA racemase
    Remark(s)