Cystinosis 101

Cystinosis is a rare genetic, metabolic, lysosomal storage disease caused by mutations in the CTNS gene on chromosome 17p13 which results in an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain. The cystine accumulation causes widespread tissue and organ damage. Cystine … Continue reading Cystinosis 101