HYPERAMMONEMIA DUE TO A DEFECT IN HEPATIC ORNITHINE TRANSCARBAMYLASE
| Autor: | Philip Sunshine, Jeffrey E. Lindenbaum, Harvey L. Levy, John M. Freeman |
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| Rok vydání: | 1972 |
| Předmět: | |
| Zdroj: | Pediatrics. 50:100-111 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.50.1.100 |
| Popis: | A 9-year-old girl with vomiting, changes in behavior, coma, and evidence of hepatic dysfunction at 3½ years of age was found to have hyperammonemia and decreased activity of liver ornithine transcarbamylase. When her dietary protein was reduced, she had improvement in her clinical condition and a return to normal of all hepatic function indices. Despite a defect in an enzyme of ornithine metabolism, she did not have hyperaminoacidemia, specifically hyperornithinemia, even when she had hyperammonemia. When she ingested a large amount of ornithine (300 mg/kg) she developed hyperornithinemia and hyperornithinuria. She also had orotic aciduria despite having normal activities of red cell orotidylic decarboxylase and pyrophosphorylase. Treatment with a low protein diet and citric acid supplements has been successful in preventing hyperammonemia and promoting growth and development. |
| Databáze: | OpenAIRE |
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