Hypophosphatasia
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Hypophosphatasia is a genetic condition in which the activity of an enzyme called alkaline phosphatase is deficient.[2][4] 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.[2] 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.[1] Treatment is generally directed towards preventing or correcting the symptoms or complications.
References
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Michael P. Whyte. M.D.. Hypophosphatasia. The Magic Foundation. December 5, 2007 Available at: http://www.magicfoundation.org/www/docs/175. Accessed February 19, 2008.
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Plotkin H, Anadiotis GA. Hypophosphatasia. eMedicine Journal . October 20, 2006 Available at: http://www.emedicine.com/ped/topic1126.htm. Accessed February 22, 2008.
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Hypophosphatasia. Genetics Home Reference (GHR). 2008 Available at: http://ghr.nlm.nih.gov/condition=hypophosphatasia. Accessed February 22, 2008.
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Behrman RE, Kliegman RM, Jenson HB . Nelson Textbook of Pediatrics, 17th edition. In: . Chapter 694--Hypophosphatasia. Philadelphia, PA:Saunders; 2004:2344
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eMedicine 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
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Genetics Home Reference (GHR) contains a condition summary on Hypophosphatasia. Click on the link to go to GHR and review this summary.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hypophosphatasia. Click on the link to go to OMIM and review these resources.
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The Osteoporosis and Related Bone Diseases ~ National Resource Center provides patients, health professionals, and the public with an important link to resources and information on metabolic bone diseases, including osteoporosis, Paget's disease of the bone, osteogenesis imperfecta, and hyperparathyroidism. Contact them directly by calling toll-free at 800-624-2663 or by e-mail at NIAMSBoneInfo@mail.nih.gov
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The MAGIC Foundation provides information about hypophosphatasia at the following link:
http://www.magicfoundation.org/www/docs/175.140/hypophosphatasia_general_info.html
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