Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome
| Autor: | E, Zammarchi, F, Ciani, E, Pasquini, G, Buonocore, V E, Shih, M A, Donati, G, Bonocore |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1997 |
| Předmět: |
Male
Ornithine Pediatrics medicine.medical_specialty business.industry Infant Newborn Hyperammonemia Neonatal onset Benzoic Acid medicine.disease Benzoates Ammonia Carnitine Hyperammonemic coma Pediatrics Perinatology and Child Health Diet Protein-Restricted medicine Citrulline Humans Favorable outcome business Amino Acid Metabolism Inborn Errors Hyperornithinemia |
| Popis: | We report on a neonate with hyperammonemic coma in whom hyperormthinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14 C-ornithine on cultured fibroblasts confirmed the diagnosis. At the age of 18 months, the patient is in excellent clinical condition. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|