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

Journal of Inherited Metabolic Disease
J BotschnerC R Scriver

Abstract

We measured L-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.

References

Jan 1, 1987·Journal of Inherited Metabolic Disease·M RodesG Grimber
Nov 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·D W SmithO Simell
Jan 1, 1970·Clinica Chimica Acta; International Journal of Clinical Chemistry·V E Shih, J D Schulman
Jan 1, 1982·Journal of Inherited Metabolic Disease·F A HommesB A Gordon
Feb 22, 1974·Biochimica Et Biophysica Acta·P F Zuurendonk, J M Tager

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Citations

Jan 1, 1995·Archives of Gynecology and Obstetrics·N TakayamaT Kubo
Jun 15, 1990·Experientia·J E Vance, D E Vance
Jul 27, 1999·JPEN. Journal of Parenteral and Enteral Nutrition·V R Young, A M Ajami
Jul 1, 1997·Journal of Veterinary Internal Medicine·R S McCornicoP A Wood

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