Annals of Clinical and Laboratory Science, Vol 11, Issue 3, 274-278
Copyright © 1981 by Association of Clinical Scientists
Inherited disorders of amino acid transport in relation to the kidney
BA Buehler
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.