Article
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Orphanet journal of rare diseases - 5 Jan 2017
Mauhin Wladimir, Habarou Florence, Gobin Stéphanie, Servais Aude, Brassier Anaïs, Grisel Coraline, Roda Célina, Pinto Graziella, Moshous Despina, Ghalim Fahd, Krug Pauline, Deltour Nelly, Pontoizeau Clément, Dubois Sandrine, Assoun Murielle, Galmiche Louise, Bonnefont Jean-Paul, Ottolenghi Chris, de Blic Jacques, Arnoux Jean-Baptiste, de Lonlay Pascale
Abstract excerpt
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications....
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