Infantile-onset Hypophosphatasia


Infantile-onset Hypophosphatasia: What You Need to Know

Infantile-onset hypophosphatasia is a rare genetic disorder that is characterized by low levels of alkaline phosphatase, a protein needed for normal growth and development. It is estimated to affect approximately 1 in 33,000 people worldwide and can cause serious complications in young children.

People with infantile-onset hypophosphatasia typically experience skeletal abnormalities, including soft bones and joint deformities; problems with muscle coordination and muscle weakness; and short stature. More severe cases of the condition may lead to respiratory failure and death, although this is very rare. In milder cases, however, individuals may experience few or no symptoms.

Infantile-onset hypophosphatasia is caused by a mutation in the ALPL gene, which controls the production of alkaline phosphatase. This mutation can be inherited from a parent, but it can also occur spontaneously in some individuals.

There is no specific cure for infantile-onset hypophosphatasia, but there are several treatments available to help manage the symptoms. For example, physical therapy can be used to help improve muscle coordination and physical strength. Vitamin D and/or calcium supplements may also be recommended to help improve bone health. In some cases, surgery may also be recommended.

If your child is diagnosed with infantile-onset hypophosphatasia, it is important to work with your doctor to create a treatment plan that is best for your child. Here are some tips that can help:

  • Create a regular exercise plan with your doctor or physical therapist.
  • Encourage healthy foods that are rich in calcium and vitamin D.
  • Monitor your child’s growth closely and look for any abnormalities.
  • Follow your doctor’s instructions carefully and keep up with recommended medical visits.
  • Learn all you can about the condition and stay informed about new developments.

Infantile-onset hypophosphatasia is a serious condition, but with the right care and support, your child can lead a happy and fulfilling life.