X-Linked Hypophosphatemia (XLH)
Definition
X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by low levels of phosphate in the blood due to impaired phosphate reabsorption in the kidneys. This leads to various symptoms, including bone deformities and dental abnormalities. XLH is caused by mutations in the PHEX gene and is inherited in an X-linked dominant manner.