XLH, or X-linked hypophosphatemia, is a condition that affects bones, muscles, and teeth due to the excessive loss of phosphate. Phosphate is lost through the urine, which causes low levels of phosphorus in the blood, a condition called phosphate wasting or hypophosphatemia.
Phosphate is a molecule that is made up of phosphorus and oxygen. It is required for healthy bones, muscles, and teeth. Rickets is a hallmark of XLH and is caused by the softening of bones during growth in childhood. Rickets is a key feature of XLH in children and causes symptoms such as curving of the legs, or bowed legs, which become noticeable at 2 years of age when the legs begin to bear weight. New symptoms may also appear as children grow. While some might think that XLH is a condition that occurs only during childhood, adults with XLH continue to experience symptoms of an ongoing condition.
Who gets XLH?
XLH is an uncommon condition. Children and adults, male or female, can show varying signs and symptoms of XLH.