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Pathway Description
Hypophosphatasia
Homo sapiens
Disease Pathway
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
[Metagen: HYPOPHOSPHATASIA](http://metagene.de/program/d.prg?id_d=440)
[OMIM: 241500](http://omim.org/entry/241500})
Chodirker BN, Evans JA, Lewis M, Coghlan G, Belcher E, Philipps S, Seargeant LE, Sus C, Greenberg CR: Infantile hypophosphatasia--linkage with the RH locus. Genomics. 1987 Nov;1(3):280-2.
Pubmed: 3128473
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.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Stover PJ, Field MS: Vitamin B-6. Adv Nutr. 2015 Jan 15;6(1):132-3. doi: 10.3945/an.113.005207. Print 2015 Jan.
Pubmed: 25593152
Merrill AH Jr, Henderson JM: Vitamin B6 metabolism by human liver. Ann N Y Acad Sci. 1990;585:110-7.
Pubmed: 2192606
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