Juvenile-onset Hypophosphatasia
Juvenile-onset Hypophosphatasia
Juvenile-onset hypophosphatasia is a rare genetic disorder which affects the bones and teeth. It is caused by changes in the ALPL gene which produces an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme is responsible for helping to break down minerals such as calcium and phosphorus, allowing them to be used by the body. A lack of this enzyme can lead to problems with bone and teeth development.
Hypophosphatasia usually affects children at a young age and is most likely to appear in the first two years of life. Symptoms in infants may include delayed dental development, failure to thrive, weak and soft bones (rickets) and joint pain. In older children, symptoms may include abnormally soft bones, skeletal deformities, poor development of teeth and bones and muscle weakness.
Diagnosing juvenile-onset hypophosphatasia typically involves blood tests to measure the levels of TNSALP and bone scans to evaluate the condition of the bones. Treatment may include physical therapy to help the bones and muscles develop. Dietary supplements of phosphorus and calcium may also be recommended to help support bones and teeth development. In severe cases, bisphosphonate drugs can be used to help prevent bone breakdown.
- Juvenile-onset hypophosphatasia is a rare genetic disorder which affects the bones and teeth.
- It is caused by changes in the ALPL gene which produces an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP).
- Symptoms in infants may include delayed dental development, failure to thrive, weak and soft bones (rickets) and joint pain.
- Diagnosing juvenile-onset hypophosphatasia typically involves blood tests to measure the levels of TNSALP and bone scans to evaluate the condition of the bones.
- Treatment may include physical therapy to help the bones and muscles develop. Dietary supplements of phosphorus and calcium may also be recommended to help support bones and teeth development.
- In severe cases, bisphosphonate drugs can be used to help prevent bone breakdown.