ESPE Abstracts

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterised by bone mineralisation defects and osteomalacia, and systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase activity, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease s...