What is hypophosphatasia?
A person with hypophosphatasia has a rare, inherited disease that results in decreased activity of the enzyme, alkaline phosphatase. Alkaline phosphatase assists in the metabolism of phosphate, which is present in many tissues, including bones and teeth. The illness may occur during infancy, or as an adult. The infantile form of hypophosphatasia is fatal in 50 percent of cases. Adults who develop hypophosphatasia have a normal life expectancy.
What are the symptoms of hypophosphatasia?
Symptoms of hypophosphatasia in infants include poor feeding in infants, failure to gain weight, failure to thrive, delayed development, loss of teeth, and bone pain. Symptoms of hypophosphatasia in adults include premature loss of teeth, fractures, and bone pain.
How does the doctor treat hypophosphatasia?
There is no cure for hypophosphatasia. Treatment for hypophosphatasia may include nonsteroidal anti-inflammatory medications, alkaline phosphatase replacement therapy, and surgery.
Continue to Hypophosphatasia Incidence
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- Girschick HJ, Seyberth HW, Huppertz HI. Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone. 1999 Nov;25(5):603-7. 
- Wendling D, Jeannin-Louys L, Kremer P, Fellmann F, Toussirot E, Mornet E. Adult hypophosphatasia. Current aspects. Joint Bone Spine. 2001 Mar;68(2):120-4.