title: An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
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.
authors.affiliation: Biochemical Genetics Laboratory - Hilton 3-10-02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. smith.emily1@mayo.edu
authors.forename: Emily Helen
authors.initials: EH
authors.lastname: Smith
authors.forename: Dimitar K
authors.initials: DK
authors.lastname: Gavrilov
authors.forename: Devin
authors.initials: D
authors.lastname: Oglesbee
authors.forename: William D
authors.initials: WD
authors.lastname: Freeman
authors.forename: Michael W
authors.initials: MW
authors.lastname: Vavra
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Silvia
authors.initials: S
authors.lastname: Tortorelli
mesh_terms: D017668:Age of Onset; D015415:Biomarkers / Q000097:blood; D004252:DNA Mutational Analysis; D005227:Fatty Acids / Q000097:blood; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D056784:Leukoencephalopathies / Q000209:etiology; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000201:enzymology; D010641:Phenotype; D010831:Phytanic Acid / Q000097:blood; D019998:Racemases and Epimerases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D012074:Remission Induction; D012640:Seizures / Q000209:etiology; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase
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