Monitoring

English

Periodic measurement of plasma concentration of ammonia and citrulline, and serum concentration of PSTI for all phenotypes associated with citrin deficiency. Follow up of children who have had NICCD for the laboratory and physical findings of FTTDCD. [Kobayashi, Saheki et al 2014].  In particular, for citrin deficiency patients older than age one year, an appropriate close surveillance of anthropometric indices (e.g., height, weight, and head circumference; serum lipid levels, including triglycerides, total cholesterol, HDL-cholesterol, and LDL-cholesterol) is warranted.

It is recommended that the following be measured every several months:

  • Plasma ammonia concentration (especially in the evening or 2 hours after feeding)​
  • Plasma citrulline concentration
  • ​Serum PSTI concentration
  • Increases in plasma citrulline concentration and serum PSTI suggest onset of CTLN2 [Tsuboi et al 2001, Mutoh et al 2008] which indicates prompt initiation of treatment.​

​PSTI = pancreatic secretory trypsin inhibitor​
[Kobayashi, Saheki et al 2014]

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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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