Abstract

Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric amino-acid transporters (HATs). HATs comprise two subunits: co-expression of subunits 4F2hc and y +LAT-1 induces the efflux of dibasic amino acids from cells, whereas co-expression of subunits rBAT and b o,+AT induces the renal reabsorption and intestinal absorption of cystine and dibasic amino acids at the brush border of epithelial cells. Recently, the role of b o,+AT ( SLC7A9) in cystinuria (non Type I) and the role of y +LAT-1 ( SLC7A7) in lysinuric protein intolerance have been demonstrated.

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