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Published Online First: 21 November 2007. doi:10.1136/jnnp.2007.129478
Journal of Neurology, Neurosurgery, and Psychiatry 2008;79:448-450
Copyright © 2008 by the BMJ Publishing Group Ltd.
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SHORT REPORTS

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

S A Thompson1, J Calvin2, S Hogg2, S Ferdinandusse3, R J A Wanders3, R A Barker1

1 Department of Neurology, Addenbrooke’s Hospital, Cambridge, UK
2 Biochemical Genetics Unit, Addenbrooke’s Hospital, Cambridge, UK
3 Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands

Correspondence to:
Dr R A Barker, Centre for Brain Repair, Forvie Site, Robinson Way, Cambridge, CB2 2PY, UK; rab46{at}cam.ac.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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