Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

We test the hypothesis that lysinuric protein intolerance (LPI), a rare autosomal recessive defect of cationic amino acid transport, results from the absence of the recently described y(+)L amino acid transporter. We compare fluxes of lysine (1 mu M) into erythrocytes of normal subjects with those of patients homozygous for the LPI mutation. No significant differences influxes through system y(+)L in normal or LPI cells were found, excluding the possibility that system y(+)L cannot be expressed in patients with LPI. Reasons for supposing that there may be tissue-specific processing of two recently described genes encoding the y(+)L transporter are discussed. Polymerase chain reaction measurement of expression of these two genes in an erythroleukemic cell line suggests that alternatively there may be an as-yet-unidentified additional member of this gene family.