Hypophosphatasia（HP） is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase（ALP） activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. The diagnosis is based on DNA sequencing of the ALP gene. In recent years, the research direction included tissue nonspecific alkaline phosphatase and its function of bone mineralization, the function of gene mutations in HP, the effects of HP’s treatment.
