Infantile-onset Hypophosphatasia
What is Infantile-onset Hypophosphatasia?
Infantile-onset Hypophosphatasia (IHP) is a rare, genetic metabolic disorder characterized by impaired mineralization of bones and teeth, leading to impaired bone development and growth. It is caused by a mutation in the gene that makes phosphatase activity, which leads to abnormalities in certain proteins on cells throughout the body. As a result, calcium and phosphorus cannot be released from the bones and body tissues, leading to poor bone growth and other effects. IHP typically presents in the first few months of life with stunted growth, soft and weakened bones, weak muscles, and teeth abnormalities. Infants may also have breathing and feeding difficulties due to weak chest muscles and poor muscle coordination.
Common Symptoms of Infantile-onset Hypophosphatasia
The most common symptoms of IHP are low calcium and phosphorus levels in the blood, delayed development of bones and teeth, and excessive softening of bones. Other symptoms may include:
- Poor muscle tone and coordination
- Delayed physical development
- Deformed bones
- Increased dental cavities and tooth loss
- Seizures
- Lack of appetite
- Vomiting
- Difficulty breathing
- Lethargy
- Insomnia
- Loss of muscle coordination and strength
Diagnosis and Treatment of Infantile-onset Hypophosphatasia
IHP is typically diagnosed after laboratory tests reveal low phosphatase activity, low calcium and phosphorus levels in the blood, and poor bone density and mineralization. A doctor may also order imaging tests such as X-rays and CT scans to assess the amount of bone mineralization. Treatment typically involves medications to increase calcium and phosphate levels, as well as physical and occupational therapy to strengthen muscles and improve coordination. Surgery may be necessary to repair bone deformities.
Living with Infantile-onset Hypophosphatasia
Living with IHP requires regular monitoring of symptoms, medications, and physical therapy. Parents should also provide their child with a healthy diet, as malnutrition can further worsen the condition. Regular check-ups with a bone specialist can help to monitor the progress of the disorder and new research into potential treatments can help to give hope for the future. Overall, if treated early and managed properly, infants with IHP can live a full and rewarding life.
