Aminoacidurias: Clinical and molecular aspects.

Abstract

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.

• Authors: S M R Camargo, D Bockenhauer, R Kleta
• Journal: Kidney international (Kidney Int) Vol. 73 Issue 8 Pg. 918-25 (Apr 2008) ISSN: 1523-1755 [Electronic] United States
• PMID: 18200002 (Publication Type: Journal Article, Review)

Chemical References

• Amino Acids

Topics

• Amino Acids (urine)
• Animals
• Humans
• Renal Aminoacidurias (diagnosis, genetics, metabolism, therapy)