Endocrine Abstracts

Introduction: Hypophosphatasia is a group of inherited disorders characterized by the impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It is caused by a mutation in the ALPL gene encoding the isoenzyme of ALP resulting in a loss of function. Since an early age of onset is usually associated with a more severe disease, and a late age – with a mild course of the disease, the manifestation of the disorder ranges from a life-thr...