An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Abstract excerpt

α-Methyl-acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Fatty Acids