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: S A Thompson, J Calvin, S Hogg, S Ferdinandusse, R J A Wanders, R A Barker
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 79 Issue 4 Pg. 448-50 (Apr 2008) ISSN: 1468-330X [Electronic] England
• PMID: 18032455 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fatty Acids
• pristanic acid
• Racemases and Epimerases
• alpha-methylacyl-CoA racemase

Topics

• Amino Acid Substitution (genetics)
• Brain (pathology)
• Brain Diseases, Metabolic, Inborn (diagnosis, genetics)
• Cerebral Cortex (pathology)
• Dementia (diagnosis, genetics)
• Fatty Acids (blood)
• Female
• Gene Expression Regulation, Enzymologic (physiology)
• Heredodegenerative Disorders, Nervous System (diagnosis, genetics)
• Homozygote
• Humans
• Magnetic Resonance Imaging
• Middle Aged
• Neurologic Examination
• Neuropsychological Tests
• Peroxisomal Disorders (diagnosis, genetics)
• Phenotype
• Point Mutation (genetics)
• Racemases and Epimerases (deficiency)
• Recurrence
• Refsum Disease (diagnosis, genetics)
• Sequence Analysis, DNA