Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
case_report · Level V
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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.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Ammonia
- Citrulline
- Diet, Protein-Restricted
- Ornithine