Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.

Abstract

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.

• Authors: H Reichmann, H Scheel, B Bier, U P Ketelsen, S Zabransky
• Journal: Annals of neurology (Ann Neurol) Vol. 31 Issue 1 Pg. 107-9 (Jan 1992) ISSN: 0364-5134 [Print] United States
• PMID: 1311909 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Muscle Proteins
• Fatty Acid Desaturases
• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase, Long-Chain
• Cytochrome-c Oxidase Deficiency
• Fatty Acid Desaturases (deficiency)
• Female
• Humans
• Infant
• Leigh Disease (enzymology, pathology)
• Mitochondria, Liver (enzymology, pathology)
• Mitochondria, Muscle (enzymology, pathology)
• Muscle Proteins (deficiency)
• Oxidation-Reduction