XLH

XLH

Infobox Disease
Name = PAGENAME


Caption =
DiseasesDB = 6513
ICD10 =
ICD9 =
ICDO =
OMIM = 307800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D053098

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. [cite journal |author=Carpenter TO |title=New perspectives on the biology and treatment of X-linked hypophosphatemic rickets |journal=Pediatr. Clin. North Am. |volume=44 |issue=2 |pages=443–66 |year=1997 |month=Apr |pmid=9130929 |doi= |url=] Fact|date=February 2007

References

External Links

*OMIM3|307800 RareDiseases|6735|Hypophosphatemic rickets; XLH; Hypophosphatemia, vitamin D-resistant rickets


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