Abstract
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder of fatty acid metabolism which has recently been described in three adult cases. We have identified a further patient with clinical features of a relapsing encephalopathy, seizures and cognitive decline over a 40 year period. Biochemical studies revealed grossly elevated plasma pristanic acid levels, and a deficiency of AMACR in skin fibroblasts. Sequence analysis of AMACR cDNA identified a homozygous point mutation (c154T>C). This case adds to the phenotypic variation seen in this peroxisomal disorder and highlights the importance of screening for plasma pristanic acid levels in patients with unexplained relapsing encephalopathies.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution / genetics
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Brain / pathology
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Brain Diseases, Metabolic, Inborn / diagnosis*
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Brain Diseases, Metabolic, Inborn / genetics*
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Cerebral Cortex / pathology
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Dementia / diagnosis*
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Dementia / genetics*
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Fatty Acids / blood*
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Female
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Gene Expression Regulation, Enzymologic / physiology
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Heredodegenerative Disorders, Nervous System / diagnosis*
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Heredodegenerative Disorders, Nervous System / genetics*
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Homozygote
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Humans
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Magnetic Resonance Imaging
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Middle Aged
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Neurologic Examination
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Neuropsychological Tests
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Peroxisomal Disorders / diagnosis*
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Peroxisomal Disorders / genetics*
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Phenotype
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Point Mutation / genetics
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Racemases and Epimerases / deficiency*
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Recurrence
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Refsum Disease / diagnosis*
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Refsum Disease / genetics*
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Sequence Analysis, DNA
Substances
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Fatty Acids
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pristanic acid
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Racemases and Epimerases
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alpha-methylacyl-CoA racemase