Searchable abstracts of presentations at key conferences in endocrinology

ea0022p119 | Bone/Calcium | ECE2010

PTH treatment in adult hypophosphatasia: significant increase in S-AP, improvement of pain and fracture healing in two siblings with ALPL gene mutations G339R and E191K

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...