Article
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2008
Thompson S A, Calvin J, Hogg S, Ferdinandusse S, Wanders R J A, Barker R A
Abstract excerpt
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder of fatty acid metabolism which has recently been described in three adult cases. We have identified a further patient with clinical features of a relapsing encephalopathy, seizures and cognitive decline over a 40 year period. Biochemical studies revealed grossly elevated plasma pristanic acid levels, and a deficiency of AMACR in skin fibroblasts....
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