title: Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.
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.
authors.affiliation: Department of Neurology, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Thompson
authors.forename: J
authors.initials: J
authors.lastname: Calvin
authors.forename: S
authors.initials: S
authors.lastname: Hogg
authors.forename: S
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R A
authors.initials: RA
authors.lastname: Barker
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics*; D002540:Cerebral Cortex / Q000473:pathology; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D019998:Racemases and Epimerases / Q000172:deficiency*; D012008:Recurrence; D012035:Refsum Disease / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D005227:Fatty Acids; C002844:pristanic acid; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase