hypophosphatasia
Hypophosphatasia is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the ALPL gene, which is responsible for producing an enzyme called alkaline phosphatase. This enzyme is crucial for mineralization, the process that strengthens bones and teeth. Individuals with hypophosphatasia may experience weak bones, frequent fractures, and dental issues.
The severity of hypophosphatasia can vary widely, with some individuals showing symptoms at birth, while others may not experience problems until adulthood. Treatment options focus on managing symptoms and may include supplements or therapies to support bone health. Early diagnosis is important for better outcomes.