An inherited recessive disorder of the transepithelial transport (reabsorption) of cystine and dibasic amino acids in the proximal renal tubule (kidney) as well as in the small intestine.
An inherited metabolic kidney disorder characterized by stones in the kidney, ureter, and bladder; caused by excessive excretion of certain amino acids (protein building blocks) because of genetic abnormality. The Kidneys do not adequately reabsorb certain amino acids during the filtering process, resulting in excess excretion of these amino acids.
Abnormal presence of cystine (an amino acid) in the urine. Also inherited defect in the kidney, characterized by excessive excretion of cystine and other amino acids in the urine. Can result in kidney or bladder stones. See Kidney stones.
A condition in which urine contains high levels of the amino acid cystine. If cystine does not dissolve in the urine, it can build up to form kidney stones.
a genetic disorder which causes the kidneys to excrete too much cystine (an amino acid) in the urine. Cystine can form stones
Excessive excretion of cystine, along with lysine, arginine and ornithine. A hereditary condition of excessive urinary excretion of cystine, lysine, ornithine, and arginine. Predominant manifestation is formation of cystine calculi in urine that has acid pH.
Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.