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

doi:10.1007/s10545-010-9183-6

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.

Authors

Emily Helen Smith¹, Dimitar K Gavrilov, Devin Oglesbee, William D Freeman, Michael W Vavra, Dietrich Matern, Silvia Tortorelli

Affiliation

¹ 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

PMID: 20821052
DOI: 10.1007/s10545-010-9183-6

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