Rare disease
Relapsing encephalopathy in a patient with 
-methylacyl-CoA racemase deficiency
1 Addenbrooke’s Hospital, Department of Neurology, Hills Road, Cambridge, CB2 0QQ, UK
2 Addenbrooke’s Hospital, Biochemical Genetics Unit, Hills Road, Cambridge, CB2 0QQ, UK
3 Academic Medical Centre, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Amsterdam, 1100 DE, Netherlands
4 Centre for Brain Repair, Robinson Way, Cambridge, CB2 2PY, UK
Correspondence to:
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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