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Genetic and Rare Diseases Information Center (GARD)

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Hypophosphatasia


Other Names for this Disease

  • Hypophosphatasia mild
  • Phosphoethanol-aminuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hypophosphatasia is a genetic condition in which the activity of an enzyme called alkaline phosphatase is deficient.[1][2]  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.[1]  Hypophosphatasia is caused by a mutation in a gene - called the ALPL gene - that provides instructions for making the alkaline phosphatase enzyme.[3] A cure or proven medical therapy for hypophosphatasia has not yet been found.[4] Treatment is generally directed towards preventing or correcting the symptoms or complications.
Last updated: 11/4/2009

References

  1. Plotkin H, Anadiotis GA. Hypophosphatasia. eMedicine Journal . October 20, 2006; http://www.emedicine.com/ped/topic1126.htm. Accessed 2/22/2008.
  2. Behrman RE, Kliegman RM, Jenson HB . Chapter 694--Hypophosphatasia. Nelson Textbook of Pediatrics, 17th edition. Philadelphia, PA: Saunders; 2004; 2344.
  3. Hypophosphatasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=hypophosphatasia. Accessed 2/22/2008.
  4. Michael P. Whyte. M.D.. Hypophosphatasia. The Magic Foundation. December 5, 2007; http://www.magicfoundation.org/www/docs/175. Accessed 2/19/2008.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypophosphatasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypophosphatasia mild
  • Phosphoethanol-aminuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.