What is X-Linked Hypophosphatemia (XLH)?
X-Linked Hypophosphatemia (XLH) is a rare genetic disorder that affects about one in 20,000 people. The key characteristic of XLH is a low level of phosphate in the blood, called Hypophosphatemia. When a person is affected by XLH, their kidneys do not properly handle Vitamin D and phosphate. This causes a variety of symptoms and disorders that usually affect their bones and teeth.
Source: Learn About XLH (xlhnetwork.org)
Useful references
Please find below some reference to articles to understand in details the disease and its implications.
XLH Network: http://www.xlhnetwork.org/
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium: https://www.frontiersin.org/articles/10.3389/fendo.2021.641543/full
International XLH Alliance: https://xlhalliance.org/xlh/
XLH Link (KYOWA KIRIN): https://www.xlhlink.eu/index.html
XLH Link (Ultragenyx): https://www.xlhlink.com