Lysinuric Protein Intolerance (LPI)

Lysinuric Protein Intolerance, also known as lpi, is related to carbonic anhydrase va deficiency, hyperammonemia due to and orotic aciduria, and has symptoms including diarrhea, nausea and vomiting. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Response to elevated platelet cytosolic Ca2+. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include breast and bone marrow, and related phenotypes are failure to thrive and intellectual disability