Spontaneous Animal Models of Ornithine Transcarbamylase Deficiency: Studies on Serum and Urinary Nitrogenous Metabolites

  • I. A. Qureshi
  • J. Letarte
  • R. Ouellet
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)


Various groups of spf (sparse fur) and spf ash (allele with abnormal skin and hair) mice, were compared in respect of their liver ornithine transcarbamylase (OTC) activity, urinary orotate and concentrations of serum NH3 and glutamine. While liver OTC activity was comparable in both the strains, the excretion of urinary orotate was lower in spfash mice. In contrast to spf females, the spf ash/+ heterozygotes cannot be distinguished from normal +/+ females, as urinary orotate excretion has no significant correlation with liver OTC activity. However, serum glutamine is significantly correlated with liver OTC deficiency in both the strains. Administration of 1% sodium benzoate to spf/Y males resulted in a pattern of excretion of hippurate and urea N similar to clinical trials in humans. Urinary orotate was significantly reduced, while ad lib dietary intake increased almost 3 fold. Both the spontaneous animal models have considerable potential to be used in the investigation of the etiology, specific pathology and nutritional therapy of congenital hyperammonemias.


Sodium Benzoate Orotic Acid Heterozygous Female Ornithine Transcarbamylase Urea Cycle Disorder 
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Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • I. A. Qureshi
    • 1
    • 2
  • J. Letarte
    • 1
    • 2
  • R. Ouellet
    • 1
    • 2
  1. 1.Laboratoire de NutritionCentre de Recherche Pédiatrique Hôpital Sainte-JustineCanada
  2. 2.Département de PédiatrieUniversité de MontréalCanada

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