Journal
CALCIFIED TISSUE INTERNATIONAL
Volume 98, Issue 4, Pages 398-416Publisher
SPRINGER
DOI: 10.1007/s00223-015-0079-1
Keywords
Rickets; Osteomalacia; Enzyme replacement; Calcification; Seizures
Categories
Funding
- NIDCR, NIH [DE12889]
- Shriners Hospitals for Children
- Clark and Mildred Cox Inherited Metabolic Bone Disease Fund
- hypophosphatasia Research Fund
- Barnes-Jewish Hospital Foundation
Ask authors/readers for more resources
Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PPi), a natural substrate of TNAP and potent inhibitor of mineralization. Thus, HPP features rickets or osteomalacia and hypomineralization of teeth. Enzyme replacement using mineral-targeted TNAP from birth prevented severe HPP in TNAP-knockout mice and was then shown to rescue and substantially treat infants and young children with life-threatening HPP. Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe. New treatment approaches are under development to improve patient care.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available