Hypophosphatasia
Hypophosphatasia Causes
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe kind of the disease has been estimated at 1/100 000.
Hypophosphatasia Definition
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant varieties of the disease exist. The disease comes in one to five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia.
Hypophosphatasia Diagnosis
Hypophosphatasia is an inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase (AP) activity. Other ways of diagnosis are: Osteogenesis imperfect; Rickets; Achondrogenesis.
Hypophosphatasia Symptoms and Signs
Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other types are generally non-lethal. Common symptoms including bone malformations and higher chance of bone fracture. Both adult form and odontohypophosphatasial form are marked by premature teeth loss.
Hypophosphatasia Treatment
There is no known cure for hypophosphatasia. Although, there have been some claims that choline may have positive health benefits for those with the disease that take it as a dietary supplement.