ea0022p119 | Bone/Calcium | ECE2010
Schalin-Jantti Camilla
, Valimaki Matti
, Mornet Etienne
Background: Hypophosphatasia (HPP) is characterized by low serum alkaline phosphatase (S-AP) activity due to loss-of function mutations in the ALPL gene. A hallmark of adult HPP is painful, slowly healing metatarsal and femur stress fractures. There is no treatment for the disease but beneficial effects of parathyroid hormone (PTH) treatment was previously demonstrated in one patient. It is unclear how parathyroid hormone (PTH) can stimulate S-AP despite loss-of functio...