Hypophosphatasia

Hypophosphatasia is a rare genetic disorder that affects bone development and mineralization due to low levels of an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme is crucial for breaking down certain molecules that are necessary for strong bones and teeth. Without it, bones can become weak and may fracture easily, leading to pain and complications. The severity of hypophosphatasia varies, with some individuals experiencing symptoms at birth while others may not show signs until later in life. Treatment focuses on managing symptoms and may include enzyme replacement therapy to help improve bone health.