Citrin deficiency was originally described in the Japanese population and was considered an East Asian condition. In recent years, however, patients in North America and Europe have been identified and the condition is now widely viewed as a pan-ethnic disease [Dimmock et al. 2009, Vitoria et al 2013,Fernández Tomé et al 2020, Bölsterli 2022].The colored portions in the map below show the countries with citrin deficiency patients registered. You may hover over the map to display the respective countries.

FREQUENCY OF THE CONDITION

Incidence rate of citrin deficiency in those of Japanese descent :

  • Citrin deficiency – 1:17,000 (based on the carrier rate of 1:65) 
  • Observed NICCD phenotype  –  similar to the incidence rate of citrin deficiency [Shigematsu et al 2002] 
  • Observed AACD* phenotype  –  1:100,000 – 1:230,000 [Kobayashi et al 2006] 

Known carrier rate:

  • Japan (1:65) [Saheki & Song 2005; last updated 2017] 
  • China (1:45) [Lin et al 2020] 
  • South China (1:40) [Lin et al 2020] 
  • Taiwan (1:48) [Lu et al 2005, Lee et al 2011] 
  • Korea (1:50) [Kobayashi et al 2003] 
  • Singapore (1:41) [Bylstra et al 2018] 
  • Thailand (1:90) [Wongkittichote et al 2013] 
  • Vietnam (1:31) [Tran et al 2020] 

*Previously known as Citrullinemia type 2
Please find the list of references here.

Clinical Presentation