An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts

R. Lutz, A. Garnica, A. Shires, E. Freneaux, D. De Vivo, P. Neuhoff, W. J. Rhead

Research output: Contribution to journalArticle

Abstract

A patient presenting in the first year of life with feeding difficulties and failure to grow had variable but persistent lactic acidemia noted at age 20 months. Nonspecific nutritional and biochemical therapy was accompanied by improvement in general clinical status, growth, gait, and development. However, she died in a catastrophic illness at the end of the third year of life. Studies in intact fibroblast mitochondria were consistent with an isolated but partial defect in cytochrome c oxidase. On direct assay of this enzyme complex in fibroblast homogenates and mitochondria, activity was much more severely depressed (±8% of control). Her fibroblasts normally synthesized the three cytochrome c oxidase subunits encoded on the mitochondrial genome. These data confirm that this patient had cytochrome c oxidase deficiency and demonstrate significant biochemical heterogeneity, since the results of the intact mitochondrial studies correlate better with her clinical course than do those of the direct enzymatic assays.

Original languageEnglish (US)
Pages (from-to)1957-1960
Number of pages4
JournalNeurology
Volume41
Issue number12
StatePublished - Dec 1991

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Cytochrome-c Oxidase Deficiency
Fibroblasts
Enzyme Assays
Electron Transport Complex IV
Catastrophic Illness
Mitochondria
Mitochondrial Genome
Gait
Growth and Development
Milk
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Lutz, R., Garnica, A., Shires, A., Freneaux, E., De Vivo, D., Neuhoff, P., & Rhead, W. J. (1991). An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts. Neurology, 41(12), 1957-1960.

An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts. / Lutz, R.; Garnica, A.; Shires, A.; Freneaux, E.; De Vivo, D.; Neuhoff, P.; Rhead, W. J.

In: Neurology, Vol. 41, No. 12, 12.1991, p. 1957-1960.

Research output: Contribution to journalArticle

Lutz, R, Garnica, A, Shires, A, Freneaux, E, De Vivo, D, Neuhoff, P & Rhead, WJ 1991, 'An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts', Neurology, vol. 41, no. 12, pp. 1957-1960.
Lutz R, Garnica A, Shires A, Freneaux E, De Vivo D, Neuhoff P et al. An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts. Neurology. 1991 Dec;41(12):1957-1960.
Lutz, R. ; Garnica, A. ; Shires, A. ; Freneaux, E. ; De Vivo, D. ; Neuhoff, P. ; Rhead, W. J. / An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts. In: Neurology. 1991 ; Vol. 41, No. 12. pp. 1957-1960.
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