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

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Biomarkers / blood
  • DNA Mutational Analysis
  • Fatty Acids / blood
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Leukoencephalopathies / etiology
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / diet therapy
  • Lipid Metabolism, Inborn Errors / enzymology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Nervous System Diseases / blood
  • Nervous System Diseases / complications
  • Nervous System Diseases / diagnosis*
  • Nervous System Diseases / diet therapy
  • Nervous System Diseases / enzymology
  • Phenotype
  • Phytanic Acid / blood
  • Racemases and Epimerases / blood
  • Racemases and Epimerases / deficiency*
  • Racemases and Epimerases / genetics
  • Remission Induction
  • Seizures / etiology
  • Treatment Outcome

Substances

  • Biomarkers
  • Fatty Acids
  • Phytanic Acid
  • pristanic acid
  • Racemases and Epimerases
  • alpha-methylacyl-CoA racemase

Supplementary concepts

  • Alpha-Methylacyl-CoA Racemase Deficiency