| Health / Medical Topics |
Cystinosis
Definition 1
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004 (NCI Thesaurus)
Definition 2
Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed) (NLM, Medical Subject Headings)
YOU MAY ALSO LIKE
Cystine/glutamate transporter protein (501aa, ~55 kDa) is encoded by the human SLC7A11 gene. This protein is involved in the exchange of anionic…
The determination of the amount of cystine present in a sample.
The determination of the amount of cystine crystals present in a sample.
Not considered one of the 20 amino acids, Cystine is a sulfur-containing derivative obtained from oxidation of cysteine amino acid thiol side…
A parasitic infection caused by the larval form of Taenia solium. It is a disseminated infection affecting the central nervous system, subcutaneous…
A blood vessel carrying deoxygenated blood from the gallbladder and the cystic duct into the right branch of the portal vein. …
