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Cytochrome C oxidase deficiency and Long‐Chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy
Author(s) -
Reichmann Heinz,
Scheel Helmut,
Bier Bert,
Ketelsen UwePeter,
Zabransky Siegfried
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310120
Subject(s) - hypotonia , cytochrome c oxidase , respiratory chain , lactic acidosis , coenzyme q10 , coenzyme q – cytochrome c reductase , mitochondrial respiratory chain , mitochondrial myopathy , endocrinology , medicine , acyl coa dehydrogenase , dehydrogenase , biochemistry , biology , enzyme , mitochondrion , cytochrome c , gene , mitochondrial dna
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 longchain 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 β‐oxidation in muscle and liver.