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Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia

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Journal of Inherited Metabolic Disease

Abstract

Hyperornithinaemia due to a transport defect of ornithine across the inner mitochondrial membrane was demonstrated in three patients by measuring ornithine uptake by fibroblast mitochondria. Particulate compartments and soluble cytoplasm of fibroblasts were separated by a slight modification of the digitonin method of Zuurendonk and Tager. Patient's fibroblast pellet fraction contained significantly less radioactivity than control fibroblast pellet fraction after incubation of fibroblasts with [14C]-ornithine. Since neither of the patients was deficient in ornithine-δ-oxoacid aminotransferase, we concluded that in these hyperornithinaemia patients a defect exists for transport of ornithine across the inner mitochondrial membrane. The exact nature of this transport defect remains to be elucidated.

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Authors and Affiliations

  1. Department of Cell and Molecular Biology and Department of Pediatrics, Medical College of Georgia, 30912, Augusta, GA

    F. A. Hommes, C. K. Ho, R. A. Roesel & M. E. Coryell

  2. Gracewood State School and Hospital, 30812, Gracewood, GA, USA

    F. A. Hommes, C. K. Ho, R. A. Roesel & M. E. Coryell

  3. Children's Psychiatric Research Institute, London, Ontario, Canada

    B. A. Gordon

Authors
  1. F. A. Hommes
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  2. C. K. Ho
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  3. R. A. Roesel
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  4. M. E. Coryell
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  5. B. A. Gordon
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Hommes, F.A., Ho, C.K., Roesel, R.A. et al. Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia. J Inherit Metab Dis 5, 41–47 (1982). https://doi.org/10.1007/BF01799753

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  • DOI: https://doi.org/10.1007/BF01799753

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