lysinuric protein intolerance
Quick Summary
Lysinuric protein intolerance (LPI) is a rare genetic disorder affecting amino acid transport. It is characterized by defective transport of lysine, arginine, and ornithine in the intestines. This leads to a protein intolerance, causing symptoms like diarrhea, poor weight gain, osteoporosis, and skin rashes. In the long term, LPI can result in kidney and lung disease. LPI is an example of an amino acid transport disorder, which occurs when transport proteins responsible for moving amino acids across cell membranes are faulty. These disorders can prevent proper absorption of amino acids from the diet or cause them to be lost in the urine.1
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