• An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
  NCI
  U.S. National Cancer Institute, 2021
• An increased concentration of cystine in the urine.
  Human Phenotype Ontology (HPO)
  The Human Phenotype Ontology Project, 2025
• An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2025
• Inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.
  CRISP Thesaurus
  National Institutes of Health, 2006
• Cystinuria is an inherited defect of the renal tubules in which reabsorption of cystine (the homodimer of the amino acid cysteine) is impaired, urinary excretion is increased, and cystine stones form in the urinary tract. Symptoms are colic caused by stones and perhaps urinary infection or the sequela of chronic kidney disease. Diagnosis...
  Merck Manuals
  Merck & Co., Inc., 2025
• Cystinuria is an inherited defect of the renal tubules in which reabsorption of cystine (the homodimer of the amino acid cysteine) is impaired, urinary excretion is increased, and cystine stones form in the urinary tract. Symptoms are colic caused by stones and perhaps urinary infection or the sequela of renal failure. Diagnosis is by...
  Merck Manuals
  Merck & Co., Inc., 2025
• Cystinuria is an autosomal-recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from the luminal fluid of the renal proximal tubule and small intestine. The only phenotypic manifestation of cystinuria is cystine urolithiasis, which often recurs throughout an affected...
  Medscape
  WebMD, 2025
• Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder. This leads to the formation of cystine crystals and/or stones which may block the urinary tract. Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria, flank pain,...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences
• Cystinuria, hereditary error of metabolism characterized by the excessive excretion into the urine of four amino acids: cystine, lysine, arginine, and ornithine. The main clinical problem of cystinuria is the possibility of cystine stone formation in the kidney; unlike lysine, arginine, and...
  Encyclopedia Britannica
  Encyclopedia Britannica, Inc., 2025