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

J Pediatr. 1997 Sep;131(3):440-3. doi: 10.1016/s0022-3476(97)80072-8.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

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