{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T04:15:05Z","timestamp":1771647305747,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1988,7,12]],"date-time":"1988-07-12T00:00:00Z","timestamp":584668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We measured<jats:sc>l<\/jats:sc>\u2010ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia\u2010hyperammonaemia\u2010homocitrullinuria (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.<\/jats:p>","DOI":"10.1007\/bf01805528","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:56:35Z","timestamp":1119916595000},"page":"33-40","source":"Crossref","is-referenced-by-count":3,"title":["Comparison of ornithine metabolism in hyperornithinaemia\u2010hyperammonaemia\u2010homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts"],"prefix":"10.1002","volume":"12","author":[{"given":"J.","family":"Botschner","sequence":"first","affiliation":[{"name":"Medical Research Council Genetics Group McGill University\u2010Montreal Children's Hospital, Research Institute  Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. W.","family":"Smith","sequence":"additional","affiliation":[{"name":"Medical Research Council Genetics Group McGill University\u2010Montreal Children's Hospital, Research Institute  Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Simell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. R.","family":"Scriver","sequence":"additional","affiliation":[{"name":"Medical Research Council Genetics Group McGill University\u2010Montreal Children's Hospital, Research Institute  Canada"},{"name":"Department of Biology McGill University  Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1988,7,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(80)80612-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)75910-9"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1974.02110240138023"},{"key":"e_1_2_1_5_1","first-page":"668","article-title":"Studies on the metabolic defect in patients with hyperammonemia, hyperornithinemia and homocitrullinuria","volume":"24","author":"Gordon B. A.","year":"1976","journal-title":"Clin. Res."},{"key":"e_1_2_1_6_1","first-page":"329","article-title":"The hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome: an ornithine transport syndrome remedial with ornithine supplements","volume":"10","author":"Gordon B. A.","year":"1987","journal-title":"Clin. Invest. Med."},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF02310868","article-title":"Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinemia with hyperammonaemia and homocitrullinuria","volume":"6","author":"Gray R. G. F.","year":"1983","journal-title":"J. Inher. Metab. 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