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.
MeSH terms
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Age of Onset
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Biomarkers / blood
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DNA Mutational Analysis
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Fatty Acids / blood
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Genetic Predisposition to Disease
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Homozygote
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Humans
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Leukoencephalopathies / etiology
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Lipid Metabolism, Inborn Errors / blood
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Lipid Metabolism, Inborn Errors / complications
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / diet therapy
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Lipid Metabolism, Inborn Errors / enzymology
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Mutation
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Nervous System Diseases / blood
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Nervous System Diseases / complications
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Nervous System Diseases / diagnosis*
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Nervous System Diseases / diet therapy
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Nervous System Diseases / enzymology
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Phenotype
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Phytanic Acid / blood
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Racemases and Epimerases / blood
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Racemases and Epimerases / deficiency*
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Racemases and Epimerases / genetics
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Remission Induction
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Seizures / etiology
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Treatment Outcome
Substances
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Biomarkers
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Fatty Acids
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Phytanic Acid
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pristanic acid
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Racemases and Epimerases
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alpha-methylacyl-CoA racemase
Supplementary concepts
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Alpha-Methylacyl-CoA Racemase Deficiency