Hypophosphatasia is an inherited bone disorder with an estimated prevalence at birth of about 1:100,000 for the most severe form. The disorder is caused by a mutation on the gene for tissue non-specific alkaline phosphatase (TNSALP) an enzyme required for bone mineralization.
Hypophosphatasia is characterized by a high incidence of mortality in its most severe form. Other
complications include skeletal deformities and short stature. There is no drug therapy for hypophosphatasia.
View more
|