Hypophosphatasia

Hypophosphatasia (HPP) is a serious and potentially fatal, systemic, congenital metabolic disease caused by impaired activity of the enzyme alkaline phosphatase (ALP). The systemic consequences of the disease result from changed bone metabolism that often affects the skeleton and/or teeth. Symptoms can also be neurological, respiratory, muscle-related, rheumatological and/or kidney-related.

Hypophosphatasia is a heterogeneous disease and the various forms of the disease can vary a great deal in severity. Mortality is high for the most severe forms in children with symptoms already at the foetal stage and before the age of 6 months. Individuals with the least severe form of hypophosphatasia may not be diagnosed until they reach adulthood.