OverviewCystinuria is a disorder characterized by cystine stones in the kidney, ureter, and bladder. A genetic abnormality results in abnormal transport of amino acids in the kidney. The high levels of the amino acid cystine in the urine lead to stone formation. While this disease only accounts for 1-2 % of urinary tract stones in the general population, it is the most common cause among children.
Review Date 3/28/2016
Updated by: Scott Miller, MD, urologist in private practice in Atlanta, GA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.