An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
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.
Smith
Emily Helen
EH
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
Gavrilov
Dimitar K
DK
Oglesbee
Devin
D
Freeman
William D
WD
Vavra
Michael W
MW
Matern
Dietrich
D
Tortorelli
Silvia
S
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
D015415:Biomarkers; D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase
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