What is Cystinosis?
Cystinosis is a rare, metabolic disease characterised by an accumulation of the amino acid, cystine, in organs and tissues, leading to severe organ dysfunction.
The amino acid, cystine, is an amino acid stored in the lysosome of cells. In Cystinosis, the transporter for cystine is dysfunctional, causing a build up of cystine in the cells which then crystallise. These crystals quickly create toxic levels of cystine in the body, causing cellular dysfunction and even cellular death. Soft tissue and all organs are directly affected by this crystallisation, including the kidneys, eyes, liver, muscles, and central nervous system.
Cystinosis Ireland provides support and resources to families, medical professionals, researchers and others from the early stages of diagnosis through to adulthood.
Our colleagues in the US, Cystinosis Research Network, have developed a number of very useful guides and resources for families and professional. A selection can be found through the links below, or the full list of resources can be accessed by clicking here.