Hypophosphatasia (HPP)

What is Hypophosphatasia (HPP)?

Hypophosphatasia (HPP) is a genetic, chronic, and progressive bone mineralization disorder. The disease is extremely rare, with severe cases affecting around 1/300,000 people and less severe cases affecting around 1/6730 people. Common symptoms of HPP include premature loss of deciduous teeth, bone fractures, rickets (softening/ weakening of bones), muscle weakness, and impaired mobility. HPP symptoms vary widely. Common symptoms of HPP include premature loss of deciduous teeth, bone fractures, rickets (softening/ weakening of bones), muscle weakness, and impaired mobility. HPP symptoms vary widely.

Causes of Hypophosphatasia (HPP)

HPP is caused by a mutation in the ALPL gene. This gene is required for the creation of an enzyme called tissue- nonspecific isoenzyme of alkaline phosphate (TNSALP) which is required for development of healthy bones and teeth. Abnormal functioning of TNSALP can also alter the production of neurotransmitters that may play a role in stabilization of mood, sleep, and self- regulatory capacities.