HEREDITARY HYPERPHOSPHATASIA - STUDIES OF 3 SIBLINGS

Three cases of hereditary hyperphosphatasia are reported. Histologic and biochemical investigation suggests that there is a rapid turnover of lamellar bone, with failure to lay down compact cortical bone. Clinically, this manifests itself by increased concentrations of alkaline and acid phosphatases in the serum, massive urinary excretion of hydroxyproline- and proline-containing peptides, and by the early onset of severe structural deformities of the skeleton and skull with secondary cranial nerve involvement. The disorder is apparently transmitted as an autosomal recessive trait. © 1969.