Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ==Genetics== Cystinuria is an autosomal recessive disease, which means that the defective gene responsible for the disease is located on an autosome, and two copies of the defective gene (one inherite...
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An inherited disorder of metabolism which results in high levels of the amino acid cystine in the urine and leads to formation of cystine stones
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http://www.baus.org.uk/patients/glossary
hereditary error of metabolism characterized by the excessive excretion into the urine of four amino acids: cystine, lysine, arginine, and ... [2 related articles]
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An inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine. ... (12 Dec 1998) ...
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(sis″tĭ-nu´re-ә) a hereditary aminoaciduria with persistent excessive urinary excretion of cystine, lysine, ornithine, and arginine, due to impairment of renal tubular reabsorption of these amino acids. The most common result is formation of cystine kidney stones .
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Type: Term Pronunciation: sis′ti-nyū′rē-ă Definitions: 1. Excessive urinary excretion of cystine, along with lysine, arginine, and ornithine, arising from defective transport systems for these acids in the kidney and intestine; renal function is sometimes compromised by cystine crystalluria and nephrolithiasis. There are ...
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http://www.medilexicon.com/medicaldictionary.php?t=22527
Our Cystinuria Main Article provides a comprehensive look at the who, what, when and how of Cystinuria 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 comm...
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an inherited metabolic disorder that results in the excessive excretion of certain amino acids, esp. cystine, in the urine.
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https://www.infoplease.com/dictionary/cystinuria
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