If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death.

[4] Urine odor in cystinuria smells of rotten eggs due to the increase in cystine.

These defects prevent proper reabsorption of basic, or positively charged, amino acids: cystine, lysine, ornithine, arginine.

[6] Under normal circumstances, this protein allows certain amino acids, including cystine, to be reabsorbed into the blood from the filtered fluid that will become urine.

Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine.

[citation needed] Regular X-rays often fail to show the cystine stones, however, they can be visualized in the diagnostic procedure that is called intravenous pyelogram (IVP).

[citation needed] Initial treatment is with adequate hydration, alkalization of the urine with citrate supplementation or acetazolamide, and dietary modification to reduce salt and protein intake (especially methionine).

ESWL (Extracorporeal shock wave lithotripsy) is often not effective because of the hardness of the stones that do not fragment easily.

Conventional open-abdominal surgery is rarely used but has proven to be an effective treatment modality for patients with more advanced forms of the disease.

[citation needed] Videos of surgery are available on various websites that show stone removal by percutaneous nephrolithotomy.

[citation needed] In February 2017, an article was published in Nature Medicine entitled "Alpha lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria", suggesting that a high dose of the readily available antioxidant, alpha-lipoic acid at 2,700 mg/67 kg body weight daily reduced the incidence of stones.