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: Sian A Thompson, Jacqui Calvin, Sarah Hogg, Sacha Ferdinandusse, Ronald J A Wanders, Roger A Barker
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2009 ( 2009) ISSN: 1757-790X [Electronic] England
• PMID: 21686617 (Publication Type: Journal Article)