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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.

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AUTHORS AND AFFILIATIONS * Servizio di Patologia Metabolka, Ospedale Pediatrico Bambino Gesu Istituto per la Ricerca Scientifica, Rome, Italy C Dionisi Vici, C Bachmann, M Gambarara, J P

Colombo & G Sabetta * Department of Clinical Chemistry, University of Bern, Inselspital, Bern, Switzerland C Dionisi Vici, C Bachmann, M Gambarara, J P Colombo & G Sabetta Authors *

C Dionisi Vici View author publications You can also search for this author inPubMed Google Scholar * C Bachmann View author publications You can also search for this author inPubMed Google

Scholar * M Gambarara View author publications You can also search for this author inPubMed Google Scholar * J P Colombo View author publications You can also search for this author inPubMed

 Google Scholar * G Sabetta View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints 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 Download citation * Received: 10 February 1987 * Accepted: 29 April 1987 * Issue

Date: 01 September 1987 * DOI: https://doi.org/10.1203/00006450-198709000-00025 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable

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