E. Zammarchi et al., NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME, The Journal of pediatrics, 131(3), 1997, pp. 440-443
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.