Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
A female infant was seen at the age of 2 months because of hypotonia, delayed motor development, and lactic acidosis, and she died at age 13 months due to respiratory failure. In a muscle specimen taken at 11 months and in a liver specimen obtained 1.5 hours postmortem, we found decreased activities of cytochrome c oxidase and long-chain acyl coenzyme A dehydrogenase. Neuropathological changes were typical for Leigh's subacute necrotizing encephalomyelopathy. To our knowledge, this is the first report of a combined defect of complex IV of the respiratory chain and of the long-chain specific acyl coenzyme A dehydrogenase of beta-oxidation in muscle and liver.
Reichmann
H
H
Department of Neurology, University of Würzburg, Germany.
Scheel
H
H
Bier
B
B
Ketelsen
U P
UP
Zabransky
S
S
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D030401:Cytochrome-c Oxidase Deficiency; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology* / Q000473:pathology; D008930:Mitochondria, Liver / Q000201:enzymology* / Q000473:pathology; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000473:pathology; D009124:Muscle Proteins / Q000172:deficiency*; D010084:Oxidation-Reduction
D009124:Muscle Proteins; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain