Hypophosphatasia
Hypophosphatasia Causes
Hypophosphatasia is inherited as an autosomal recessive condition. To be infected with this disease, the individual must have two copies of the gene carrying it, or one from each parent.
Hypophosphatasia Definition
Hypophosphatasia is an inherited metabolic condition characterized by decreased tissue nonspecific alkaline phosphatase (TNSALP) and defects in mineralization of the bones. This rare disease comes in five forms: perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is sure to cause death while infantile hypophosphatasia carries a 50% mortality rate. The other forms are usually not deadly.
Hypophosphatasia Diagnosis
Hypophosphatasia is diagnosed after birth through a combination of physical examination, biochemical studies and x ray. Bone fractures may also be observed to confirm the diagnosis. The use of x ray is very helpful in distinguishing between the different forms of hypophosphatasia. Perinatal hypophosphatasia is often characterized by complete underminiralization of the bones.
Hypophosphatasia Symptoms and Signs
The symptoms of hypophosphatasia include malformations of the bone and an increased chance in suffering from bone fractures. These symptoms often appear within the first 6 months after being born. Premature teeth loss is also a symptom of hypophosphatasia for both children and adult sufferers.
Hypophosphatasia Treatment
There is no known treatment for this condition. Choline dietary supplements though are reported to have offered some health benefits to a number of individuals with hypophosphatasia.