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Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
  1. Sian A Thompson (sianthompson{at}doctors.org.uk)
  1. Department of Neurology, Addenbrooke’s Hospital, Cambridge, United Kingdom
    1. Jacqui Calvin (jacqui.calvin{at}addenbrookes.nhs.uk)
    1. Biochemical Genetics Unit, Addenbrooke’s Hospital, Cambridge, United Kingdom
      1. Sarah Hogg (sarah.hogg{at}addenbrookes.nhs.uk)
      1. Biochemical Genetics Unit, Addenbrooke’s Hospital, Cambridge, United Kingdom
        1. Sacha Ferdinandusse (s.ferdinandusse{at}amc.uva.nl)
        1. Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, Netherlands
          1. Ronald JA Wanders (r.j.wanders{at}amc.uva.nl)
          1. Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, Netherlands
            1. Roger A Barker (rab46{at}cam.ac.uk)
            1. Department of Neurology, Addenbrooke’s Hospital, Cambridge, United Kingdom

              Abstract

              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 (c.154T>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.

              • AMACR deficiency
              • encephalopathy
              • peroxisomal
              • racemase

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