Hypophosphatasia is an inherited metabolic bone disease from deficient activity of tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). A condition which was first described in 1948 by Dr. John C Rathbun, hypophosphatasia affects approximately 500–600 known individuals in the United States. It clinically presents in different forms of severity ranging from nonspecific symptoms in adults to very severe perinatal form including death in utero. However, a common feature of hypophosphatasia across all age groups is reduced serum alkaline phosphatase leading to defective bone mineralization. Management involves medical treatment, surgical repair, and enzyme replacement therapy.
KeywordsHypophosphatasia Alkaline phosphatase Bone Bone mineralization Metabolic bone disease Inherited bone disease