Cystinosis: Status of research and treatment in India and the world

J Biosci. 2023:48:50.


Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome. The defect arises from a mutation in the lysosomal efflux pump, cystinosin (or CTNS). Despite the disease being known for more than a century, research, diagnosis, and treatment in India have been very minimal. In recent years, however, some research on cystinosis has been carried out on understanding the pathophysiology and in the development of a humanized yeast model for interrogating the CTNS protein. There has also been a greater awareness of the disease that has been facilitated by the formation of the Cystinosis Foundation of India just over a decade ago. Awareness among primary physicians is critical for early diagnosis, which in turn is critical for proper treatment. Eight different mutations have been observed in cystinosis patients in India, and the mutation spectrum seems different to what has been seen in the US and Europe. Despite these positive developments, there are immense hurdles still to be surmounted. This includes ensuring that the diagnosis is done sooner, making cysteamine more easily available, and, also for the future, to make accessible the promise of gene therapy to cystinosis patients.

MeSH terms

  • Cysteamine / adverse effects
  • Cystine / genetics
  • Cystine / metabolism
  • Cystinosis* / diagnosis
  • Cystinosis* / epidemiology
  • Cystinosis* / genetics
  • Humans
  • India / epidemiology
  • Mutation


  • Cystine
  • Cysteamine