What Is Hypophosphatasia?
Reviewed: Dr. Gromatzky
1. What Causes Hypophosphatasia?
Hypophosphatasia results from a mutation of a specific gene known as the tissue nonspecific alkaline phosphatase (TNSALP) gene. This gene is responsible for the proper development of bones and teeth. Depending on the degree to which the gene is affected, hypophosphatasia can be either mild or severe.
In a normal, healthy body, calcium and phosphorous are taken up by the bones, allowing them to have the proper amount of hardness and flexibility. In hypophosphatasia, the genetic mutation does not change the levels of calcium and phosphorous in the body; rather, the bones are unable to take up these chemicals at adequate levels.
