Non-neoplastic or metabolic disease

Topic Completed: 1 June 2012

Revised: 27 December 2018

Copyright: (c) 2003-2018,, Inc.

PubMed Search: Hypophosphatasia

Dariusz Borys, M.D.
Page views in 2019: 126
Page views in 2020 to date: 29
Cite this page: Borys D Hypophosphatasia. website. Accessed March 31st, 2020.
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

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