hrp0094p2-91 | Bone, growth plate and mineral metabolism | ESPE2021
AlJuraibah Fahad
, Aldubayee Mohamed
, Alsagheer Afaf
, Shaikh Adnan Al
,
Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...