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.^{[citation needed]}

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

Retrieved from "http://en.wikipedia.org../../../x/l/h/XLH_ce3a.html"

Categories: Articles with unsourced statements since February 2007 | All articles with unsourced statements | Genetic disorder stubs

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• This page was last modified 12:17, 6 February 2007 by Wikipedia user SmackBot. Based on work by Wikipedia user(s) Bdve, Pharveng and Discospinster.
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