Aminoacidurias: Clinical and molecular aspects

Kidney Int. 2008 Apr;73(8):918-25. doi: 10.1038/ Epub 2008 Jan 16.


Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small intestinal epithelia (absorption). Recently, many of the genes causing this abnormal transport have been molecularly identified. In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Signs, symptoms, diagnosis, treatment, causative or candidate genes, functional characterization of the encoded transporters, and animal models are discussed.

Publication types

  • Review

MeSH terms

  • Amino Acids / urine*
  • Animals
  • Humans
  • Renal Aminoacidurias / diagnosis*
  • Renal Aminoacidurias / genetics
  • Renal Aminoacidurias / metabolism
  • Renal Aminoacidurias / therapy


  • Amino Acids