Aminoacidurias: Clinical and molecular aspects.
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.
Camargo
S M R
SM
Institute of Physiology and Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland.
Bockenhauer
D
D
Kleta
R
R
D000596:Amino Acids / Q000652:urine*; D000818:Animals; D006801:Humans; D000608:Renal Aminoacidurias / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy
D000596:Amino Acids