Article Text

Rare disease
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
  1. Sian A Thompson1,
  2. Jacqui Calvin2,
  3. Sarah Hogg2,
  4. Sacha Ferdinandusse3,
  5. Ronald J A Wanders3,
  6. Roger A Barker4
  1. 1
    Addenbrooke’s Hospital, Department of Neurology, Hills Road, Cambridge, CB2 0QQ, UK
  2. 2
    Addenbrooke’s Hospital, Biochemical Genetics Unit, Hills Road, Cambridge, CB2 0QQ, UK
  3. 3
    Academic Medical Centre, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Amsterdam, 1100 DE, Netherlands
  4. 4
    Centre for Brain Repair, Robinson Way, Cambridge, CB2 2PY, UK
  1. rab46{at}


α-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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  • Competing interests: None.