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Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
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Laboratory findings include low-normal serum calcium, moderately low serum phosphate, elevated serum alkaline phosphatase, and low serum 1,25 dihydroxy-vitamin D levels, hyperphosphaturia, and no evidence of hyperparathyroidism. [8] Hypophosphatemia decreases 2,3-bisphosphoglycerate (2,3-BPG) causing a left shift in the oxyhemoglobin curve.
The enzyme alkaline phosphatase (ALP, alkaline phenyl phosphatase) is a phosphatase with the physiological role of dephosphorylating compounds. The enzyme is found across a multitude of organisms, prokaryotes and eukaryotes alike, with the same general function, but in different structural forms suitable to the environment they function in. Alkaline phosphatase is found in the periplasmic ...
Some tests are associated with functionality (e.g., albumin), some with cellular integrity (e.g., transaminase), and some with conditions linked to the biliary tract (gamma-glutamyl transferase and alkaline phosphatase). Because some of these tests do not measure function, it is more accurate to call these liver chemistries or liver tests ...
76768 Ensembl ENSG00000163283 ENSMUSG00000079440 UniProt P05187 F8VPQ6 RefSeq (mRNA) NM_001632 NM_001081082 RefSeq (protein) NP_001623 NP_001074551 Location (UCSC) Chr 2: 232.38 – 232.38 Mb Chr 1: 87.03 – 87.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alkaline phosphatase, placental type also known as placental alkaline phosphatase (PLAP) is an allosteric enzyme that in ...
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Alkaline phosphatase allows for mineralization of calcium and phosphorus by bones and teeth. [21] ALPL gene mutation leads to insufficient TNAP enzyme and allows for an accumulation of chemicals such as inorganic pyrophosphate [ 21 ] to indirectly cause elevated calcium levels in the body and lack of bone calcification.