ESPE Abstracts

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Background: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). Poor skeletal mineralisation, muscle weakness, pain, and accompanying complications characteristic of HPP result in impaired physical function, decreasing ability to perform daily activities, and quality of life. Improvement in physical function is a treatment target, yet established physical ac...