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

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.
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].
File in questo prodotto:
File Dimensione Formato  
neonatalonset.pdf

non disponibili

Tipologia: PDF editoriale
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 1.04 MB
Formato Adobe PDF
1.04 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/30268
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo