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Scientific literature and patient education texts

Basic Understanding About X-Linked Hypophosphatemia (XLH)

key information

source: Hormone Health Network Endocrine Society


What is XLH?
XLH is a rare disorder, affecting 1 in 20,000 individuals. It is developed when the mineral phosphorus is wasted into urine. This “wasting” can cause low phosphorus levels in blood called hypophosphatemia. Phosphorus is a mineral found in bones that is responsible for building and repairing bones and teeth, making muscle contract, supplying the cells with energy and essential for normal growth and development. Bones release, stored phosphorus to try to keep blood levels normal but the loss of phosphorus from bones leads to soft weak bones also called rickets, where mineral deficiency deforms the growth plate, and osteomalacia, where poor mineralization weakens the bone structure.

What Causes XLH?
XLH is caused by a defect (a mutation) in a gene called PHEX [pronounced “Feks”] gene on the X chromosome. This gene is responsible for regulating phosphates in the body. The genetic change prevents the kidneys from processing phosphorus correctly. 

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