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 microM) into erythrocytes of normal subjects with those o...

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Bibliographic Details
Published in:Pflügers Archiv 2000-03, Vol.439 (5), p.513-516
Main Authors: Boyd, C A, Deves, R, Laynes, R, Kudo, Y, Sebastio, G
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors - genetics
Amino Acid Metabolism, Inborn Errors - metabolism
Amino acids
Antigens, CD - genetics
Antigens, CD - metabolism
Biological Transport - physiology
Carrier Proteins - genetics
Carrier Proteins - metabolism
Cations - pharmacokinetics
Child
DNA, Complementary
Erythrocytes - chemistry
Erythrocytes - metabolism
Fusion Regulatory Protein-1
Gene Expression - physiology
Humans
K562 Cells
Lysine - pharmacokinetics
Oligonucleotide Probes
RNA, Messenger - analysis
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Summary: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 microM) into erythrocytes of normal subjects with those of patients homozygous for the LPI mutation. No significant differences in fluxes 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.
ISSN:0031-6768
1432-2013
DOI:10.1007/s004249900215