Infantile hypophosphatasia is a rare genetic disorder that affects the bones and teeth. It is caused by a mutation in the gene that codes for the enzyme alkaline phosphatase. Symptoms of infantile hypophosphatasia include soft bones, delayed motor development, and dental problems. It is usually diagnosed in infancy and can be treated with medications and physical therapy.

The symptoms of infantile hypophosphatasia vary depending on the age of the child. In infants, the most common symptoms include:

-Delayed motor development
-Failure to thrive
-Softening of the bones (rickets)
-Frequent fractures
-Seizures
-Lethargy
-Respiratory problems
-Feeding difficulties
-Delayed tooth eruption
-Enlarged liver and spleen
-Calcium deposits in the soft tissues
-Abnormal calcium and phosphorus levels in the blood

The exact cause of infantile hypophosphatasia is unknown. It is believed to be caused by mutations in the gene that codes for the enzyme alkaline phosphatase (ALP). Mutations in this gene can lead to a decrease in the activity of ALP, which is responsible for breaking down certain proteins and minerals in the body. This can lead to a buildup of these proteins and minerals, resulting in the symptoms of infantile hypophosphatasia.

The primary treatment for infantile hypophosphatasia is the use of enzyme replacement therapy (ERT). ERT involves the intravenous administration of recombinant human tissue-nonspecific alkaline phosphatase (rhTNSALP) to replace the missing enzyme. This treatment has been shown to improve bone mineralization, reduce skeletal deformities, and improve overall health in some patients. Other treatments may include physical therapy, calcium and vitamin D supplementation, and bisphosphonate therapy.

1. Genetic mutation in the ALPL gene
2. Family history of the disorder
3. Low levels of alkaline phosphatase in the blood
4. Low levels of phosphorus in the blood
5. Low levels of calcium in the blood
6. Delayed motor development
7. Poor feeding
8. Respiratory problems
9. Seizures
10. Bone fractures

There is no cure for infantile hypophosphatasia, but there are medications that can help manage the symptoms. These medications include enzyme replacement therapy, bisphosphonates, and calcitriol. Your doctor can help you decide which medication is best for your child.