Pflügers Archiv

, Volume 439, Issue 5, pp 513–516

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

  • C.A.R. Boyd
  • R. Deves
  • R. Laynes
  • Y Kudo
  • G. Sebastio
Original Article

DOI: 10.1007/s004249900215

Cite this article as:
Boyd, C., Deves, R., Laynes, R. et al. Pflügers Arch – Eur J Physiol (2000) 439: 513. doi:10.1007/s004249900215

Abstract.

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 µM) 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.

Amino acid transport CD98hc LPI Lysinuric protein intolerance System y+L 

Copyright information

© Springer-Verlag 0000

Authors and Affiliations

  • C.A.R. Boyd
    • 1
  • R. Deves
    • 2
  • R. Laynes
    • 1
  • Y Kudo
    • 1
  • G. Sebastio
    • 3
  1. 1.Department of Human Anatomy and Genetics, University of Oxford, Oxford, OX1 3QX, UK
  2. 2.Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Casilla 70005, Santiago 7, Chile
  3. 3.Dipartimento di Pediatria, Universita degli studi di Napoli Federico II, Via S. Pansini, 5, I-80131, Naples, Italy