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dcterms:abstract
  • 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.
medline:abstractText
  • 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.
medline:articleTitle
  • Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.
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dcterms:bibliographicCitation
  • Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.J Neurol Neurosurg Psychiatry. 2008 Apr ;79(4):448-50
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dcterms:identifier
  • 18032455
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dcterms:language
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?:mentions
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medline:pagination
  • 448-50
medline:pmid
  • 18032455
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medline:publicationType
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't
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dcterms:title
  • Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.
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