Other Names for this Disease
- Hypophosphatasia mild
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enzyme called alkaline phosphatase is deficient. 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. Hypophosphatasia is caused by a mutation in a gene - called the ALPL gene - that provides instructions for making the alkaline phosphatase enzyme. A cure or proven medical therapy for hypophosphatasia has not yet been found. Treatment is generally directed towards preventing or correcting the symptoms or complications.Hypophosphatasia is a genetic condition in which the activity of an
Last updated: 11/4/2009
- Plotkin H, Anadiotis GA. Hypophosphatasia. eMedicine Journal . October 20, 2006; http://www.emedicine.com/ped/topic1126.htm. Accessed 2/22/2008.
- Behrman RE, Kliegman RM, Jenson HB . Chapter 694--Hypophosphatasia. Nelson Textbook of Pediatrics, 17th edition. Philadelphia, PA: Saunders; 2004; 2344.
- Hypophosphatasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=hypophosphatasia. Accessed 2/22/2008.
- Michael P. Whyte. M.D.. Hypophosphatasia. The Magic Foundation. December 5, 2007; http://www.magicfoundation.org/www/docs/175. Accessed 2/19/2008.
- Genetics Home Reference (GHR) contains information on Hypophosphatasia. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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
- The MAGIC Foundation provides information about hypophosphatasia at the following link:
- 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.
- 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.