Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation. Neurology 1990 Mar;40(3 Pt 1):487-91
Date
03/01/1990Pubmed ID
2314592DOI
10.1212/wnl.40.3_part_1.487Scopus ID
2-s2.0-0025239837 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
We describe a young girl who presented with recurrent episodes of central nervous system (CNS) demyelination mimicking multiple sclerosis. Metabolic evaluations and decreased oxidation of [9,10(n)-3H] palmitate demonstrated defective mitochondrial beta oxidation, but complementation studies of the patient's cells, fused with cell lines with known defects of beta oxidation, failed to identify a known disorder. While progressive CNS demyelination has occurred in patients with defective peroxisomal very long-chain fatty acid oxidation, this is the 1st time it has occurred with defective mitochondrial beta oxidation. This patient appears to represent a novel disorder of beta oxidation producing intermittent demyelination with profound CNS symptoms. Recognition of the defect led to appropriate therapy, which caused marked clinical improvement.
Author List
Powell BR, Kennaway NG, Rhead WJ, Reece CJ, Burlingame TG, Buist NRAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Amino Acid Metabolism, Inborn ErrorsChild, Preschool
Demyelinating Diseases
Diagnosis, Differential
Dicarboxylic Acids
Fatty Acid Desaturases
Female
Glutarates
Humans
Mitochondria
Multiple Sclerosis
Oxygen Consumption
