Understanding XLH


Hypophosphatemic rickets, x-linked rickets, vitamin-D resistant rickets, phosphate diabetes- this rare genetic condition is know by many names but most commonly X-Linked Hypophosphatemia (XLH). When a mutation on the X chromosome from the PHEX gene stops the kidneys from processing phosphorus correctly it can cause this life-long genetic bone disease that affects 1 in 20,000 people. XLH is usually diagnosed in childhood but some symptoms are too mild and unnoticeable until adulthood. An early and accurate diagnosis is key to managing XLH.

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This resource was developed in due to the generous support of Ultragenyx Pharmaceuticals, Inc. 
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