- /sis'teuh noor"ee euh, -nyoor"-/, n. Pathol.an inherited metabolic disorder that results in the excessive excretion of certain amino acids, esp. cystine, in the urine.[1850-55; CYSTINE + -URIA]
* * *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; (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.
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Cystinuria — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
cystinuria — cystinuria. См. цистинурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Cystinuria — An inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones. Cystinuria is the most common defect… … Medical dictionary
cystinuria — noun Etymology: New Latin Date: 1853 a metabolic defect characterized by excretion of excessive amounts of cystine in the urine and inherited as an autosomal recessive trait … New Collegiate Dictionary
cystinuria — noun The presence of cystine in the urine … Wiktionary
cystinuria — cys·ti·nu·ria … English syllables
cystinuria — n. an inborn error of metabolism resulting in excessive excretion of the amino acid cystine in the urine due to a defect of reabsorption by the kidney tubules. It may lead to the formation of cystine stones in the kidney … The new mediacal dictionary
cystinuria — … Useful english dictionary
International Cystinuria Foundation — The International Cystinuria Foundation (ICF) is a Colorado based nonprofit organization that provides educational resources to individuals affected by cystinuria. Its mission is to strengthen, educate, and further the general well being of the… … Wikipedia
CSNU — cystinuria … Medical dictionary