Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p062 | (1) | ICCBH2017

Lysinuric protein intolerance presenting with short stature and osteoporosis

Karaguzel Gulay , Aydin Halil , Erginer Begum

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive multisystemic metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells.Presenting problem: A 14-year-old boy was referred to our clinic for short stature. He was the second child of consanguineous healthy parents. He had previously suffered for 4 fractures occurred secondary to minimal trauma in the upper limbs. H...