ESPE Abstracts

Background: Hypophosphatasia (HPP) is a rare inherited disease of bone metabolism caused by inactivating mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSAP). Infantile HPP is characterized by early onset abnormal skeletal mineralization with hypercalcemia and low alkaline phosphatase (ALP). It has been rarely reported from Thailand, resulting in limited disease awareness. We reported an infantile HPP Thai patient who p...