Hypophosphatasia
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| Hypophosphatasia Classification and external resources | |
| ICD-10 | E83.3 |
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| ICD-9 | 275.3 |
| OMIM | 146300 240500 240510 |
| DiseasesDB | 6516 |
| eMedicine | ped/1126 |
| MeSH | D007014 |
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Ongoing Trials on Hypophosphatasia at Clinical Trials.gov Trial results on Hypophosphatasia Clinical Trials on Hypophosphatasia at Google
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US National Guidelines Clearinghouse on Hypophosphatasia NICE Guidance on Hypophosphatasia
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Patient resources on Hypophosphatasia Discussion groups on Hypophosphatasia Patient Handouts on Hypophosphatasia Directions to Hospitals Treating Hypophosphatasia Risk calculators and risk factors for Hypophosphatasia
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Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss.
There is no known cure for hypophosphatasia. However, there have been some claims that choline may have positive health benefits for those with the disease that take it as a dietary supplement.
References
Rathbun J. (1948). "Hypophosphatasia, a new developmental anomaly.". Am J Dis Child 75: 822-827.
Links
- Canadian Hypophosphatasia Contact Support Group
See also
de:Hypophosphatasie
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
