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Pathway Description
Hypophosphatasia
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Infantile hypophosphatasia, also called I-HPP, is a severe, rare and fatal metabolic bone disease and an inborn error of metabolism. I-HPP is caused by a defective alkaline phosphatase, tissue-nonspecific isozyme, which catalyzes the conversion of pyridoxal 5'-phosphate into pyridoxal and conversion of pyridoxamine 5'-phosphate to pyridoxamine. Both products are important for later metabolism. Early symptoms of the disorder include poor feeding, irritability, hypotonia (state of low muscle tone), failure to thrive and seizures.. Treatment with enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase is very effective. It is a very rare genetic disease happened in infant, with 90 cases have been reported to date.
References
Hypophosphatasia References
Mornet E, Nunes ME: Hypophosphatasia
Pubmed: 20301329
Vitamin B6 Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
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Pubmed: 3478679
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Pubmed: 19468303
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Pubmed: 15489334
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Pubmed: 21183079
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000503
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