Hypophosphatasia: Genetic and Dental Studies

Abstract

Hypophosphatasia is considered to be an inborn error in metabolism, the cardinal features of which are impaired mineralization of bone, reduced tissue and plasma alkaline phosphatase activity, and excretion of phosphoethanolamine in the urine. Three clinical types are recognized: [1] infantile (symptoms beginning between birth and 6 months and characterized by severe softening of bones, fever, anemia, vomiting, hypercalcemia and high mortality), [2] childhood (symptoms beginning between 6 and 24 months and characterized by milder bone lesions, bowing of legs when the child begins to walk, and premature loss of teeth), and [3] adult (bone pains, "pathologic" fractures and a