title: Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency.
abstract: α-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: Addenbrooke's Hospital, Department of Neurology, Hills Road, Cambridge, CB2 0QQ, UK.
authors.forename: Sian A
authors.initials: SA
authors.lastname: Thompson
authors.forename: Jacqui
authors.initials: J
authors.lastname: Calvin
authors.forename: Sarah
authors.initials: S
authors.lastname: Hogg
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Roger A
authors.initials: RA
authors.lastname: Barker