OMIA:000194 : Citrullinaemia

Categories: Homeostasis / metabolism phene

Possible human homologues (MIM numbers): 215700 (trait) , 603470 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: The clinical signs of this disorder result from ammonia poisoning, due to a fault in the urea cycle. This cycle is the biochemical process by which potentially toxic ammonia (a by-product of catabolism of proteins) is converted to urea, which is excreted in urine. The fault in the cycle arises from a deficiency of one of the enzymes involved in the cycle, namely argininosuccinate synthetase (ASS). The absence of this enzyme leads to a buildup of citrulline and, more seriously, of ammonia.

Species in which this phene is found:
taurine cattle (Bos taurus)
indicine cattle (zebu) (Bos indicus)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 06 Jul 2021
  • Changed by Imke Tammen2 on 01 Sep 2021
  • Changed by Imke Tammen2 on 04 Nov 2022
  • Changed by Imke Tammen2 on 23 Jan 2023