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Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
Cystinuria is caused by too much cystine in the urine. Normally, most cystine dissolves and returns to the bloodstream after entering the kidneys. People with cystinuria have a genetic defect that interferes with this process. As a result, cystine builds up in the urine and forms crystals or stones. These crystals may get stuck in the kidneys, ureters, or bladder. About one in every 10,000 people have cystinuria. Cystine stones are most common in young adults under age 40. Less than 3% of urinary tract stones are cystine stones.