Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency. Issue 4 (21st November 2007)

• Record Type: Journal Article
• Authors: Thompson, S A; Calvin, J; Hogg, S; Ferdinandusse, S; Wanders, R J A; Barker, R A
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 79:Issue 4(2008)
• Page Start: 448
• Page End: 450
• Publication Date: 2007-11-21
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2007.129478
• Languages: English
• ISSNs: 0022-3050

Abstract

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.