Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation.
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.
Powell
B R
BR
Department of Pediatrics, Oregon Health Sciences University, Portland 97201-3098.
Kennaway
N G
NG
Rhead
W J
WJ
Reece
C J
CJ
Burlingame
T G
TG
Buist
N R
NR
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000378:metabolism*; D003937:Diagnosis, Differential; D003998:Dicarboxylic Acids / Q000652:urine; D044943:Fatty Acid Desaturases / Q000378:metabolism*; D005260:Female; D005977:Glutarates / Q000652:urine; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D009103:Multiple Sclerosis / Q000175:diagnosis / Q000378:metabolism*; D010101:Oxygen Consumption
D003998:Dicarboxylic Acids; D005977:Glutarates; D044943:Fatty Acid Desaturases; C035736:glutaric acid