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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hypophosphatasia


Other Names for this Disease

  • Hypophosphatasia mild
  • Phosphoethanol-aminuria
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Treatment

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How is hypophosphatasia treated?

As yet, there is no cure for hypophosphatasia and no proven medical therapy. Treatment is generally directed towards preventing or correcting the symptoms or complications. Expert dental care and physical therapy are recommended. An orthopedic procedure called "rodding" may be especially helpful for adults with painful partial fractures in their thigh bones.[1]

Some medications are being evaluated. Preliminary results of one study suggest that dietary phosphate restriction could be helpful in the management of hypophosphatasia. In another study teriparatide (the recombinant human parathyroid hormone PTH 1–34) was successfully used to improve and resolve metatarsal stress fractures in adult hypophosphatasia. Enzyme replacement therapy by using a substitutive enzyme targeting mineralized tissue may be the most promising challenge of the next few years.[2]

Infusion of normal alkaline phosphatase has provided only temporary improvement, but prolonged response has been observed after transplantation of marrow cells which express the normal enzymes.[3]

The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. You can find studies involving hypophosphatasia by searching this database. In particular, there is a study titled, "Molecular Pathogenesis and Treatment of Hypophosphatasia" that may be of interest to you. To find this and additional studies, click on the link below and enter "hypophosphatasia" in the "Terms Search" box. Then click "Submit Query".
Link: http://projectreporter.nih.gov/reporter.cfm
Last updated: 7/17/2013

References
  1. Michael P. Whyte. M.D.. Hypophosphatasia. The Magic Foundation. December 5, 2007; http://www.magicfoundation.org/www/docs/175. Accessed 2/19/2008.
  2. Etienne Mornet. Hypophosphatasia. Orphanet J Rare Dis. 2007;
  3. Kronenberg HM, Melmed S, Polonsky, KS, Larsen PR. Williams Textbook of Endocrinology, 11th edition. Philadelphia, PA : Saunders Elsevier; 2008;


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hypophosphatasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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.