Amino acid metabolic disorder involving cystine stones forming in the kidneys, ureter, and bladder
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Medical condition
Cystinuria
Other names
Cystinuria-lysinuria[1]
These cystine crystals were found in the urine sediment of a male dog who presented to the veterinary hospital with a history of chronic stranguria (straining to urinate) and pollakiuria (abnormally increased frequency of urination). A cystotomy was performed and numerous cystoliths (bladder stones) were removed. 5μm scale bar; 1,000x magnification; focus-stacked image consisting of 12 exposures; courtesy of Lance Wheeler.
Specialty
Endocrinology
Cystinuria is an inherited autosomal recessive disease[1] characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.
^ ab"Cystinuria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 15 April 2019. Retrieved 15 April 2019.
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation...
International Cystinuria Foundation (ICF) is a Colorado-based nonprofit organization that offers educational resources to individuals affected by cystinuria. Its...
control the rate of cystine precipitation and excretion in the disease cystinuria. It is available as a generic medication. Tiopronin is indicated, in combination...
treat urinary calculi (kidney stones), and is often used by patients with cystinuria.[medical citation needed] A systematic review showed a significant reduction...
with severe central nervous system involvement. Citrullinemia Cystinosis Cystinuria Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology:...
and gastric torsion. Other problems include obesity, osteosarcoma, and cystinuria. Problems only occasionally found include cardiomyopathy, allergies, vaginal...
complexes of copper, is used in the treatment of Wilson's disease and cystinuria, as well as refractory rheumatoid arthritis. Chelation in the intestinal...
sickle cell disease, leukemia, Duchenne muscular dystrophy, and homo-cystinuria. Codfish vertebra sign is usually first seen in lumbar vertebrae. Ntagiopoulos...
accumulate crystal-forming substances in their urine. For example, those with cystinuria, cystinosis, and Fanconi syndrome may form stones composed of cystine...
arsenic poisoning, after dimercaprol (BAL). It is no longer recommended. In cystinuria, a hereditary disorder in which high urine cystine levels lead to the...
by the SLC3A1 gene. Mutations in the SLC3A1 gene are associated with cystinuria. Heterodimeric amino acid transporter Solute carrier family GRCh38: Ensembl...
"Recent advances in the biochemical and molecular biological basis of cystinuria". The Journal of Urology. 156 (6): 1907–1912. doi:10.1016/S0022-5347(01)65389-8...
cystine in urine is often indicative of amino acid reabsorption defects. Cystinuria has been reported to occur in dogs. In humans the excretion of high levels...
etc.) and that may be a sign of metabolic or liver disorders such as cystinuria. Microcrystallization is irritating to the uroepithelium and can lead...
tiopronin (brand name Thiola), a drug used to treat the rare disease cystinuria, and another drug Chenodal, and subsequently raised the price of each...
pharaoh of the eighteenth dynasty of Egypt, may have had homocystinuria. Cystinuria Hyperhomocysteinemia Online Mendelian Inheritance in Man (OMIM): 236200...
Commons has media related to Cysteine. Amino acids Cysteine metabolism Cystinuria Saville reaction Sullivan reaction "PubChem data". Belitz, H.-D; Grosch...
deposition is most evident in the conjunctiva and cornea. Hartnup disease Cystinuria CTNS Cystinosin "Cystinosis on Genetic home reference". "Abderhalden Kaufmann...
This test can indicate inborn errors of amino acid transporters such as cystinuria, which results from pathology in the transport of dibasic amino acids...
brachyurus): Nutritional Considerations with Emphasis on Management of Cystinuria (Thesis). University of Maryland. pp. 58–75. hdl:1903/2520. Gertz, Holger...
urine) - this prevents uric acid stones and cystine stones (which form in cystinuria). It is different than citric acid which is citrate bonded by hydrogen...
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