Type of disease: Rare conditions
Hypophosphatasia is a genetic condition in which the activity of an enzyme called alkaline phosphatase is deficient. This enzyme plays an essential role in mineralization – when minerals such as calcium and phosphorus are deposited in developing bones and teeth. Low activity of this enzyme which characterizes hypophosphatasia also leads to rickets, osteomalacia, or both. The severity of the symptoms of hypophosphatasia varies widely, from fetal loss during pregnancy to cases in which pathologic fractures first present only in adulthood. Hypophosphatasia is caused by a mutation in a gene – called the ALPL gene – that provides instructions for making the alkaline phosphatase enzyme. A cure or proven medical therapy for hypophosphatasia has not yet been found. Treatment is generally directed towards preventing or correcting the symptoms or complications.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.