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cystinuria

[sis-tuh-noo r-ee-uh, -nyoo r-] /ˌsɪs təˈnʊər i ə, -ˈnyʊər-/
noun, Pathology
1.
an inherited metabolic disorder that results in the excessive excretion of certain amino acids, especially cystine, in the urine.
Origin
1850-1855
1850-55; cystine + -uria
Dictionary.com Unabridged
Based on the Random House Dictionary, © Random House, Inc. 2014.
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Examples from the web for cystinuria
  • cystinuria is caused by too much of an amino acid called cystine in the urine.
cystinuria in Medicine

cystinuria cys·ti·nu·ri·a (sĭs'tə-nur'ē-ə, -nyur'-)
n.
A hereditary condition characterized by excessive urinary excretion of cystine, lysine, arginine, and ornithine, caused by a defect in the renal tubules that impairs reabsorption of these acids.

The American Heritage® Stedman's Medical Dictionary
Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.
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Encyclopedia Article for 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 ornithine, which are freely soluble, cystine is only slightly soluble in urine, and when urine volume decreases, particularly at night, this amino acid may form stones. These may be reduced or eliminated by forcing fluids, alkalization, or, in severe cases, dietary restriction of foods containing methionine and cystine. Cystinuria is believed to be caused by a genetic defect in the transport system of the kidney tubule, which normally reabsorbs the four amino acids into the body circulation. In some forms of cystinuria, intestinal transport may be similarly affected. It is estimated that approximately one in 600 persons excretes abnormally large quantities of cystine, which can be detected by a simple test. Cystinuria is transmitted by an autosomal recessive gene: unaffected carriers of the trait who mate may expect, on the basis of chance, to have one affected offspring out of four

Learn more about cystinuria with a free trial on Britannica.com
Encyclopedia Britannica, 2008. Encyclopedia Britannica Online.
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