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Hypophosphatasia



Hypophosphatasia
Classification & external resources
ICD-10 E83.3
ICD-9 275.3
DiseasesDB 6516
eMedicine ped/1126 

Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss.

Additional recommended knowledge

There is no known cure for hypophosphatasia. However, there have been some claims that choline may have positive health benefits for those with the disease that take it as a dietary supplement.

References

Rathbun J. (1948). "Hypophosphatasia, a new developmental anomaly.". Am J Dis Child 75: 822-827.

  • NCBI

Links

  • Canadian Hypophosphatasia Contact Support Group

See also


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Hypophosphatasia". A list of authors is available in Wikipedia.
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