Project Description

Hypophosphatasia: Hypophosphatasia (HPP) is a hereditary disorder of bone metabolism that ranges from severe defects in tooth development and bone fractures that may be fatal in childhood; to the adult variety which may be either asymptomatic or accompanied by diffuse muscle pain and fractures of the femur (thigh bone) and/or feet bones(metatarsals).

In adults, the blood test called the alkaline phosphatase is low and, if present should be followed by the measurements of the serum phosphorus (elevated) vitamin B6 (elevated), and serum Pyridoxal 5′-phosphate, a substrate for alkaline phosphatase. The basic defect in HPP the poor activity of bone specific alkaline phosphatase(BSAP), an enzyme made in the osteoblast, which leads to poor mineralization of bone that may appear on bone biopsy as osteomalacia.

Genetic testing in individuals suspected of having HPP may help confirm the diagnosis. Recently, an exciting new FDA approved treatment became available to treat HPP- alpha-afotase (Strensiq™); an enzyme that restores the ability of the osteoblast to make bone.