NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME

Authors
ZAMMARCHI E CIANI F PASQUINI E BONOCORE G SHIH VE DONATI MA
Citation
E. Zammarchi et al., NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME, The Journal of pediatrics, 131(3), 1997, pp. 440-443
Citations number
11
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
131
Issue
3
Year of publication
1997
Pages
440 - 443
Database
ISI
SICI code
0022-3476(1997)131:3<440:NOOHS>2.0.ZU;2-N
Abstract
We report on a neonate with hyperammonemic coma in whom hyperornithine mia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropria te treatment led to rapid clinical and metabolic improvement. The inco rporation of C-14-ornithine on cultured fibroblasts confirmed the diag nosis. At the age of 18 months, the patient is in excellent clinical c ondition.