Alkaline Phosphatase and Hypophosphatasia

Alkaline Phosphatase and Hypophosphatasia

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 featu...

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Main Authors: Millán, José Luis, Whyte, Michael P.
Format: Online
Language:English
Published: Springer US 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824800/
id pubmed-4824800
recordtype oai_dc
spelling pubmed-48248002016-04-20 Alkaline Phosphatase and Hypophosphatasia Millán, José Luis Whyte, Michael P. Review 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. Springer US 2015-11-21 2016 /pmc/articles/PMC4824800/ /pubmed/26590809 http://dx.doi.org/10.1007/s00223-015-0079-1 Text en © The Author(s) 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Millán, José Luis
Whyte, Michael P.
spellingShingle Millán, José Luis
Whyte, Michael P.
Alkaline Phosphatase and Hypophosphatasia
author_facet Millán, José Luis
Whyte, Michael P.
author_sort Millán, José Luis
title Alkaline Phosphatase and Hypophosphatasia
title_short Alkaline Phosphatase and Hypophosphatasia
title_full Alkaline Phosphatase and Hypophosphatasia
title_fullStr Alkaline Phosphatase and Hypophosphatasia
title_full_unstemmed Alkaline Phosphatase and Hypophosphatasia
title_sort alkaline phosphatase and hypophosphatasia
description 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.
publisher Springer US
publishDate 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824800/
_version_ 1613563826528059392

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