Orthopedics > OCOSH Classification > Bone Diseases > Metabolic Bone Diseases > Pathologic Bone Demineralization > Hypophosphatasia > Hypophosphatasia eMedicine
Previous
Hypophosphatasia eMedicine
Visit Resource Review It Rate It Bookmark It
Location: http://www.emedicine.com/ped/topic1126.htm
Description: Initially recognized by Rathbun in 1948, hypophosphatasia is a rare inborn error of metabolism. Low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), which leads to rickets, osteomalacia, or both, characterize this disorder. Incidence has been estimated at 1 per 100,000 births. Clinical presentation varies widely, from death in utero to cases in which pathologic fractures first present only in adulthood.
Type: Lecture/Presentation
Author/Contact: Plotkin et al
Institution: eMedicine
Primary Subject/Category:
Submitted by: admin
Hits: 763
Added: Sat Mar 31 2007