ESPE Abstracts

Introduction: Lysinuric protein intolerance (LPI) is a rare autosomal recessive condition caused by a mutation in the SLC7A7 gene. This gene provides instructions for production of y+LAT-1 protein transporter, without which there is disruption in transportation of important amino acids, namely lysine, arginine and ornithine. This results in a body depletion of these amino acids, resulting in insidious symptoms such as short stature, muscle weakness and bone fr...