Abstract
ABSTRACT: Two patients with neonatal onset of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2½ yr of age, respectively. The aim of the investigation was to assess the effect of supplementing citrulline, arginine, or ornithine (2 mmol/kg per day) while on a protein-restricted diet. The peroral supplementation was carried out during 2 wk for each aminoacid. While ammonia in plasma was not increased the supply of citrulline or arginine led to a reduction of plasma glutamine compared to ornithine supplement or to no supplement (control period). Plasmatic ornithine was raised in all instances. Homocitrulline excretion was lower with all additions compared to the control period. Adding citrulline to the diet (in contrast to supplementing arginine) did not lower tubular lysine reabsorption. A lowered creatine excretion was found which could be normalized by arginine or citrulline. The data are compatible with a product inhibition of arginino-glycine transamidinase suggesting that the enzyme is not located in the mitochondrial matrix in man. Citrulline supplement combined with a protein-restricted diet appears to allow a normal development. The additional finding of a factor VII and X deficiency in one of the patient and reports in the literature of this association in two other patients with hyperornithinemia- hyperammonemia-homocitrullinuria syndrome suggest that the genetic defect leading to the syndrome might be located on chromosome 13.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Dionisi Vici, C., Bachmann, C., Gambarara, M. et al. Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome: Low Creatine Excretion and Effect of Citrulline, Arginine, or Ornithine Supplement. Pediatr Res 22, 364–367 (1987). https://doi.org/10.1203/00006450-198709000-00025
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-198709000-00025
This article is cited by
-
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Orphanet Journal of Rare Diseases (2019)
-
Liver involvement in urea cycle disorders: a review of the literature
Journal of Inherited Metabolic Disease (2017)
-
The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
Orphanet Journal of Rare Diseases (2015)
-
Single amino acid supplementation in aminoacidopathies: a systematic review
Orphanet Journal of Rare Diseases (2014)
-
Creatine metabolism in urea cycle defects
Journal of Inherited Metabolic Disease (2012)