Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.
We measured mediated fluxes of L-lysine and L-ornithine across the plasma membrane of erythrocytes from control subjects and patients homozygous for the lysinuric protein intolerance (LPI) mutation. We found no differences in net uptake or efflux of cationic amino acids in control and LPI cells, contrary to our findings in cultured skin fibroblasts. We conclude that expression of the LPI (y+) transport system for cationic amino acids varies between tissues and that measurements of fluxes in erythrocytes cannot be used for diagnosis of LPI.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D001692:Biological Transport; D004910:Erythrocyte Membrane / Q000378:metabolism*; D006801:Humans; D008239:Lysine / Q000097:blood / Q000378:metabolism*; D009154:Mutation; D010641:Phenotype
D008239:Lysine