Non-neoplastic or metabolic disease

Author: Dariusz Borys, M.D. (see Authors page)

Revised: 3 October 2016, last major update June 2012

Copyright: (c) 2003-2016,, Inc.

PubMed Search: Hypophosphatasia
Cite this page: Hypophosphatasia. website. Accessed December 17th, 2018.
Definition / general
  • Rare genetic disease due to disturbance in synthesis of alkaline phosphatase
  • Different disorder than hypophosphatemia

Autosomal recessive form:
  • Severe disease in infants, rapidly fatal

Autosomal dominant form:
  • May not be identified until adulthood
  • May be asymptomatic, although associated with short stature
  • Deformity of extremities, rickets-like disorder
  • May cause painful periarticular calcification (J Bone Miner Metab 2012;30:722)
  • Reduced levels of alkaline phosphatase in blood, bone, intestines, liver, kidney
  • Normal serum calcium and phosphorus
Microscopic (histologic) description
  • Increased osteoid, irregular epiphyseal cartilage with lengthened chondrocyte columns

  • Osteomalacia with increased nonmineralized bone but reduced osteoblasts