Why does cystine accumulate in cystinosis?

The CTNS gene produces a protein known as cystinosin, which is required to move, or transport, cystine out of lysosomes (the "recycling centers" of the body’s cells). Since it can’t be moved out of the lysosome, the cystine builds up in the cells. As cystine builds up it forms crystals which interrupt cell function leading to early cell death and organ damage.

Other Questions About Cystinosis

• Will my child with cystinosis need dialysis?
• Will cystine crystals form in a transplanted kidney?
• Why does cystine accumulate in cystinosis?
• Why are there compliance issues with cystinosis?
• Where can I talk to other people with cystinosis?