| Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. | |
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MedLine Citation:
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PMID: 18032455 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S A Thompson; J Calvin; S Hogg; S Ferdinandusse; R J A Wanders; R A Barker |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2007-11-21 |
Journal Detail:
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Title: Journal of neurology, neurosurgery, and psychiatry Volume: 79 ISSN: 1468-330X ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-03-17 Completed Date: 2008-04-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: England |
Other Details:
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Languages: eng Pagination: 448-50 Citation Subset: IM |
Affiliation:
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Department of Neurology, Addenbrooke's Hospital, Cambridge, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution
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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 |
| Chemical | |
Reg. No./Substance:
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0/Fatty Acids; 1189-37-3/pristanic acid; EC 5.1.-/Racemases and Epimerases; EC 5.1.99.4/alpha-methylacyl-CoA racemase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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