We report on a neonate with hyperammonemic coma in whom hyperornithinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14C-ornithine on cultured fibroblasts confirmed the diagnosis. At the age of 18 months, the patient is in excellent clinical condition.
Zammarchi, E., Ciani, F., Pasquini, E., Buonocore, G., Shih, V.E., Donati, M.A. (1997). Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. THE JOURNAL OF PEDIATRICS, 131(3), 440-443 [10.1016/S0022-3476(97)80072-8].
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome
Buonocore, G.;
1997-01-01
Abstract
We report on a neonate with hyperammonemic coma in whom hyperornithinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14C-ornithine on cultured fibroblasts confirmed the diagnosis. At the age of 18 months, the patient is in excellent clinical condition.
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https://hdl.handle.net/11365/30268
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