1. A rare inherited metabolic disorder in which excessive amounts of the amino acid cystine are excreted in the urine, often leading to the formation of kidney stones.
Usage: Medical/scientific term; Uncountable noun

Examples

• Cystinuria is an autosomal recessive disorder that affects amino acid transport in the kidneys.
• Patients with cystinuria may experience recurrent kidney stone formation.
• Early diagnosis of cystinuria can help prevent serious kidney complications.
• Treatment for cystinuria often includes increased fluid intake and dietary modifications.
• Genetic testing can confirm a diagnosis of cystinuria in affected individuals.