Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

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.

• Authors: E Zammarchi, F Ciani, E Pasquini, G Buonocore, V E Shih, M A Donati, G Bonocore
• Journal: The Journal of pediatrics (J Pediatr) Vol. 131 Issue 3 Pg. 440-3 (Sep 1997) ISSN: 0022-3476 [Print] United States
• PMID: 9329423 (Publication Type: Case Reports, Journal Article)

Chemical References

• Benzoates
• homocitrulline
• Citrulline
• Ammonia
• Benzoic Acid
• Ornithine
• Carnitine

Topics

• Amino Acid Metabolism, Inborn Errors (diagnosis, diet therapy, metabolism)
• Ammonia (blood)
• Benzoates (therapeutic use)
• Benzoic Acid
• Carnitine (therapeutic use)
• Citrulline (analogs & derivatives, therapeutic use, urine)
• Diet, Protein-Restricted
• Humans
• Infant, Newborn
• Male
• Ornithine (metabolism, therapeutic use)