Inherited disorders of amino acid transport in relation to the kidney.
Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through investigations of the renal aminoacidurias are presented.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D000596:Amino Acids / Q000378:metabolism* / Q000652:urine; D001693:Biological Transport, Active; D002352:Carrier Proteins / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism; D003555:Cystinuria / Q000378:metabolism; D006250:Hartnup Disease / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism*
D000596:Amino Acids; D002352:Carrier Proteins