1.
J Pediatr
; 131(3): 440-3, 1997 Sep.
Article
in English
| MEDLINE
| ID: mdl-9329423
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.