Hypophosphatasia (HPP) is a rare, inherited metabolic disorder characterized by defective mineralization of bones and teeth, leading to a range of clinical manifestations. It results from mutations in the ALPL gene, which encodes the enzyme tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme is crucial for bone mineralization and energy metabolism. In pediatrics, hypophosphatasia can present in various forms, from perinatal lethal to milder childhood forms.
