Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.

@article{Baulny2012LysinuricPI,
  title={Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.},
  author={H{\'e}l{\`e}ne Ogier de Baulny and Manuel Schiff and Carlo Dionisi-Vici},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={106 1},
  pages={12-7}
}
Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport at the basolateral membrane of intestinal and renal tubular cells caused by mutations in SLC7A7 encoding the y(+)LAT1 protein. LPI has long been considered a relatively benign urea cycle disease, when appropriately treated with low-protein diet and l-citrulline supplementation. However, the severe clinical course of this disorder suggests that LPI should be regarded as a… CONTINUE READING
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