Journal of Inherited Metabolic Disease

, Volume 12, Issue 1, pp 33–40 | Cite as

Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts

  • J. Botschner
  • D. W. Smith
  • O. Simell
  • C. R. Scriver


We measuredl-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (McKusick 22270) cells in which there is an ornithine transport abnormality at the plasma membrane. Net uptake of ornithine is not abnormal in intact HHH cells. Ornithine oxidation was depressed in HHH and gyrate atrophy cells but not in lysinuric protein intolerance cells; the latter finding suggests there is no significant mitochondrial defect in lysinuric protein intolerance cells. Since HHH cells have intact ornithine aminotransferase, impaired oxidation is compatible with deficient penetration of ornithine into mitochondria in this disease. We could not demonstrate a gene dosage effect in oxidation values.


Metabolic Disease Ornithine Skin Fibroblast Dosage Effect Gene Dosage 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • J. Botschner
    • 1
  • D. W. Smith
    • 1
  • O. Simell
    • 3
  • C. R. Scriver
    • 1
    • 2
  1. 1.Medical Research Council Genetics GroupMcGill University-Montreal Children's Hospital, Research InstituteCanada
  2. 2.Department of BiologyMcGill UniversityCanada
  3. 3.Department of PediatricsUniversity of TurkuTurkuFinland

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