Incidence of the Condition

English

Carrier rate or heterozygote rate :

  • Japan (1 : 65) [Saheki & Kobayashi 2002, Tabata et al 2008]
  • China (1 : 65) [Lu et al 2005, Lee et al 2011]
  • Southern China and Taiwan (1 : 48)    [Lu et al 2005, Lee et al 2011]
  • Korea (1 : 112)  [Lu et al 2005, Lee et al 2011]

Incidence rate of citrin deficiency in those of Japanese descent :

  • ​Citrin deficiency based on the carrier rate of 1:65 - 1:17,000 [Saheki et al 2002]
  • Observed NICCD phenotype  -  similar to the incidence rate of citrin defiency [Shigematsu et al 2002]
  • Observed CTLN2 phenotype  -  1 : 100,000 - 1: 230,000 [Kobayashi et al 2006]

Based on the current known incidence rate, maybe about one out of 10 citrin deficiency patients would develop CTLN2. However, it is reassuring to know that since the citrin gene was discovered by Kobayashi and Saheki in 1999 to cause CTLN2 and NICCD, none of the NICCD patients discovered since then in Japan with, proper diet management and follow-ups, has developed CTLN2 (Saheki, personal communication).

Prevalence of the Condition

Citrin deficiency was initially described only in individuals  in Japan and then in East Asia but in recent years some patients in America and Europe have been reported, so it can be considered a pan-ethnic distribution disease, although it is much more common in Asia. [Ben-Shalom et al 2002, Hutchin et al 2006, Luder et al 2006, Dimmock et al 2009, Fiermonte et al 2008, Song et al 2008, Tabata et al 2008, Song et al 2009, Song et al 2011]

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Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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