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GTR Home > Conditions/Phenotypes > Alpha-methylacyl-CoA racemase deficiency

Alpha-methylacyl-CoA racemase deficiency

Synonyms
AMACR deficiency

Summary

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). [from OMIM]

Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMACRD, CBAS4, P504S, RACE, RM, AMACR
    Summary: alpha-methylacyl-CoA racemase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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