An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Links
(6) - ARTICLES
(1) - MeSH descriptor
(3) - BOOKS
subject heading
openseadragon
Number of the records: 1
This site uses cookies to make them easier to browse. Learn more about
how we use cookies.
