Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp364 | Other diseases of bone and mineral metabolism | ECTS2014

Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms

Whyte Michael , Leung Edward , Wilcox William , Liese Johannes , Reeves Amy , Melian Agustin , Odrljin Tatjana , Zhang Hui , Hofmann Christine

Background: Hypophosphatasia (HPP) is caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase. Extracellular accumulation of inorganic pyrophosphate can lead to profound hypomineralization resulting in limb and chest deformity, respiratory complications and vitamin B6-dependent seizures in the severe forms of HPP. The natural history of HPP is poorly understood, but the perinatal and infantile forms are often considered lethal.<p class="...