XLH

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X-linked Hypophosphatemia (XLH) is a genetic disease characterized by mutation in the PHEX gene sequence (Xp.22) and subsequent altered (or missing) activity of the PHEX protein.

XLH symptoms are rickets and growth retardation in children and Osteomalacia in adults.

Biochemically, XLH is recognized by hypophosphatemia and inappropriately low level of calcitriol (1,25-OH vitamin D3).

The prevalence of the disease is 1:20000. ^{[1][citation needed]}

[edit] References

1. ^ Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997;44:443-466