X-linked Hypophosphatemia (XLH) is a rare genetic disorder that affects the bones and teeth. It is caused by a mutation in the PHEX gene, which leads to excessive loss of phosphate in the urine and inadequate absorption of phosphate from the intestines. Phosphate is essential for the development and maintenance of bones and teeth.
Individuals with XLH often experience symptoms such as bowed legs, short stature, dental problems, and bone pain. These symptoms can vary in severity, with some individuals experiencing more debilitating effects than others.
XLH is an X-linked disorder, meaning it primarily affects males. However, females who carry the mutated gene can also exhibit symptoms, although they are generally milder. The condition is typically diagnosed through genetic testing and evaluation of symptoms.
Treatment for XLH focuses on managing symptoms and improving quality of life. This may involve medications to regulate phosphate levels, orthopedic interventions to correct bone deformities, and dental care to address tooth abnormalities.
Early diagnosis and appropriate management can greatly improve outcomes for individuals with XLH, allowing them to lead more fulfilling lives.