Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 month of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Neurology Wiley

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

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Publisher
Wiley
Copyright
Copyright © 1983 American Neurological Association
ISSN
0364-5134
eISSN
1531-8249
DOI
10.1002/ana.410140209
pmid
6312869
Publisher site
See Article on Publisher Site

Abstract

A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 month of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.

Journal

Annals of NeurologyWiley

Published: Aug 1, 1983

References

  • Mitochondria and disease
    Carafoli, Carafoli; Roman, Roman
  • Debrancher deficiency: neuromuscular disorder in 5 adults
    DiMauro, DiMauro; Hartwig, Hartwig; Hays, Hays; Eastwood, Eastwood; Franco, Franco; Olarte, Olarte; Chang, Chang; Roses, Roses; Fetell, Fetell; Schoenfeldt, Schoenfeldt; Steri, Steri
  • An electron transport system associated with the outer membrane of liver mitochondria
    Sottocasa, Sottocasa; Kuylenstierna, Kuylenstierna; Ernster, Ernster; Bergstrand, Bergstrand

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