Explore: Cystinuria

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

by the SLC3A1 gene. Mutations in the SLC3A1 gene are associated with cystinuria. Heterodimeric amino acid transporter Solute carrier family GRCh38: Ensembl

Frontotemporal dementia, ubiquitin-positive Graves' disease Hypotonia-cystinuria syndrome Kleine–Levin syndrome Leptin deficiency or dysfunction Leptin

arsenic poisoning, after dimercaprol (BAL). It is no longer recommended. In cystinuria, a hereditary disorder in which high urine cystine levels lead to the

Commons has media related to Cysteine. Amino acids Cysteine metabolism Cystinuria Saville reaction Sullivan reaction "PubChem data". Belitz, H.-D; Grosch

control the rate of cystine precipitation and excretion in the disease cystinuria. It is available as a generic medication. Tiopronin is indicated, in combination

"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

sickle cell disease, leukemia, Duchenne muscular dystrophy, and homo-cystinuria. Codfish vertebra sign is usually first seen in lumbar vertebrae. The

accumulate crystal-forming substances in their urine. For example, those with cystinuria, cystinosis, and Fanconi syndrome may form stones composed of cystine