Causes of X-Linked Hypophosphatemia
The main cause of X-linked hypophosphatemia is a mutated PHEX gene on the X chromosome. A mutation in this part inhibits the suppression of the FGF-23 hormone, which plays a key role in controlling the level of phosphate in the body. As a result, this leads to a higher amount of FGF-23 in the body, which affects how the kidneys work to filter and get rid of phosphate through urination. This is also known as phosphate wasting. At the same time, too much FGF-23 also lowers the level of vitamin D. Since both phosphorate and vitamin D are essential for teeth and bone development, people with X-linked hypophosphatemia may experience many symptoms related to these parts of the body. [3]
