Journal of Neurology, Neurosurgery, and Psychiatry 2008;79:448-450
SHORT REPORTS
Relapsing encephalopathy in a patient with 
-methylacyl-CoA racemase deficiency
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
-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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