An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

Emily Helen Smith, Dimitar K. Gavrilov, Devin Oglesbee, William D. Freeman, Michael W. Vavra, Dietrich Matern, Silvia Tortorelli

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.

Original languageEnglish (US)
Pages (from-to)S349-S353
JournalJournal of inherited metabolic disease
Issue numberSUPPL. 3
StatePublished - Dec 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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