Important

It is possible that the main title of the report Hypophosphatasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

 Synoyms

• HHRH
• Hypercalciuric Rickets
• Hypophosphatemic Rickets with Hypercalcemia

Disorder Subdivision

• Hypophasphatasia, Infantile
• Hypophasphatasia, Childhood
• Hypophosphatasia, Adult
• Pseudohypophosphatasia

General Discussion

Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage at the end of the long bones (epiphyses) during early years. The activity of the enzyme alkaline phosphatase in blood serum and bone cells is lower than normal. Urinary excretion and blood plasma concentrations of phosphoethanolamine and inorganic pyrophosphate are abnormally high. Unlike other forms of rickets, Hypophosphatasia does not respond to treatment with vitamin D.