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.


Leave a message about 'Cystinuria'

We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.