X-linked hypophosphatemia (XLH) is a genetic disorder which occurs when there are mutations to a gene on the X chromosome.  The gene is called PHEX (Phosphate Regulating Endopeptidase Homolog X-Linked) gene and has a in role keeping a proper balance of phosphate in the body.

This gene mutation causes an increase of a protein called fibroblast growth factor 23 (FGF23) which decreases the kidneys’ ability to reabsorb phosphate into blood stream and causes an increase of phosphate in the urine (phosphaturia) and therefore this results in a decrease of phosphate blood levels (hypophosphatemia).

As phosphate is important for normal bone and teeth formation the symptoms of  X-linked hypophosphatemia include bone pain, skeletal deformities, short stature, dental abscesses, cavities and enamel problems.

Drugs used to treat X-Linked Hypophosphatemia