Cystinosis is a rare, inherited disease characterized by the abnormal accumulation of the amino acid cystine inside cells. It is caused by a defect in the CTNS gene, which encodes for a transporter protein that moves cystine out of lysosomes. As a result, cystine crystals build up in various tissues and organs including the eyes, muscles, kidneys, liver, brain, heart and other parts o... https://www.patreon.com/posts/cystinosis-what-127194803