Hypophosphatasia

First recognized by Rathbun in1948, hypophosphatasia is an inherited metabolic bone disease similar to rickets. It results from low levels of an enzyme known as alkaline phosphatase (ALP). Alkaline phosphatase is normally present in large amounts in bones and in the liver. But when you have hypophosphatasia, abnormalities in the gene that makes ALP lead to production of inactive ALP. Hypophosphatasia occurs in all races, males and females are affected equally, and it affects all …

…necessary. The traditional defects of vitamin D metabolism are not present in hypophosphatasia, and excessive vitamin D can cause hypercalcemia. Because of the skeletal involvement of hypophosphatasia patients should consult an orthopedist. Patients with the infantile and childhood forms should have regular follow ups with their orthopedist. Any form of hypophosphatasia should be treated with care at all times. Whether the patient has the perinatal, infantile, childhood, adult, or odontohypophosphatasic they deserve the proper attention.