Stature in cystinuria.

Cystinuria and renal transplantation.

Amino acid imbalance in cystinuria.

After oral ingestion of a free amino acid mixture by three cystinuric patients, plasma increments of lysine and arginine were lower and those of many other amino acids were significantly higher than those found in control subjects. Similar results were obtained in control subjects after amino acid imbalance had been artificially induced by the omission of cystine, lysine, and arginine from the ...

Xviii. Protein Metabolism in Cystinuria

Cystinuria—Diagnosis and Management

Cystinuria is an autosomal recessive disorder of cystine and dibasic amino acid transport across the luminal membrane of proximal tubule and small intestine. Two responsible genes have been identified: mutations in the SLC3A1 gene, located on the chromosome 2p, cause cystinuria type I, while variants in SLC7A9 have been demonstrated in nontype I cystinuria. The poor urinary solubility of cystin...

Digenic Inheritance in Cystinuria Mouse Model

Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria t...