Cystinuria is an inherited autosomal recessive metabolic disorder that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. It is a rare, lifelong condition in which too much of a certain amino acid, called cystine, builds up in the urine. Cystine stones tend to reoccur and are typically larger and harder than other types of kidney stones and often require medical procedures to remove.
Anna Zisman, MD from the University of Chicago discusses the disease and diagnosis of the disease.