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J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50. Epub 2007 Nov 21.

Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.

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  • 1Department of Neurology, Addenbrooke's Hospital, Cambridge, UK.


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. Sequence analysis of AMACR cDNA identified a homozygous point mutation (c154T>C). This case adds to the phenotypic variation seen in this peroxisomal disorder and highlights the importance of screening for plasma pristanic acid levels in patients with unexplained relapsing encephalopathies.

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