Tags: Disease.
Hypophosphatasia is a rare and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant with profound skeletal hypomineralization and respiratory compromise to a milder progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization leading to rickets or osteomalacia.