Overview
Hypophosphatasia ranges from severe forms in babies to mild forms in adults. It is caused by low activity of an enzyme called alkaline phosphatase.
Symptoms
- Soft, weak bones and fractures
- Bone deformities and short stature
- Early loss of baby teeth
- Bone and muscle pain
- Breathing problems and poor feeding in severe infant forms
Causes and risk factors
It is caused by changes in the ALPL gene and can be inherited.
Diagnosis
Blood tests show low alkaline phosphatase. X-rays and genetic tests confirm the diagnosis.
Treatment
Treatment includes enzyme replacement therapy for severe forms, managing fractures, dental care, physiotherapy and pain relief.
When to see a doctor
See a doctor if a child loses baby teeth very early or has repeated fractures.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
