X-Linked Hypophosphatemia (XLH)

Understanding X-Linked Hypophosphatemia (XLH)

X-Linked Hypophosphatemia (XLH) is a rare, inherited disorder that affects phosphate metabolism, leading to low levels of phosphate in the blood (hypophosphatemia). This deficiency results in bone weakening, rickets, and various skeletal deformities. XLH is caused by mutations in the PHEX gene, which leads to excessive phosphate loss through the kidneys and impaired bone mineralization. Unlike other forms of rickets, XLH does not respond to vitamin D supplementation alone and requires targeted treatment.

Common Signs and Symptoms of XLH:

• Bone Pain and Weakness: Persistent discomfort and reduced strength in the bones.
• Rickets and Skeletal Deformities: Bowing of the legs, abnormal gait, and other deformities due to poor bone mineralization.
• Short Stature: Stunted growth or reduced height, particularly in children.
• Dental Abnormalities: Increased risk of dental issues such as abscesses or enamel defects.
• Delayed Motor Milestones: In children, delayed walking or other motor development challenges.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.