Cystinosis er en metabolisk sygdom, der hedder ” nephropatisk cystinosis ”, som karakteriseres ved en unormal ophobning af aminosyren cystein i visse organer f. eks. nyrer, øjne, bugspytkirtlen og hjernen.
Cystinosis is a metabolic disease called ‘ nephropathic cystinosis’ which is characterized by an abnormal accumulation of the amino acid cystine in various organs of the body such as the kidney, eye, muscle, pancreas, and brain.