Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes |
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| Authors: | D. W. Smith C. R. Scriver O. Simell |
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| Affiliation: | (1) Medical Research Council Genetics Group, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada;(2) Department of Biology, McGill University, Montreal, Quebec, Canada;(3) Department of Nutrition, Kuopio University, Kuopio, Finland;(4) deBelle Laboratory for Biochemical Genetics, Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3 Montreal, Quebec, Canada |
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| Abstract: | Summary 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 fribroblasts. 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. |
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