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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]
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 ...
0.15 [5] 1.1 [5] Aspartate transaminase (AST/ASAT [5]) Female: 6 [55] 34 [55] IU/L: Also called serum glutamic oxaloacetic transaminase (SGOT) 0.25 [5] 0.60 [5] μkat/L Male: 8 [55] 40 [55] IU/L 0.25 [5] 0.75 [5] μkat/L Alkaline phosphatase (ALP) 0.6 [5] 1.8 [5] μkat/L: Female: 42 [54] 98 [54] U/L: Male: 53 [54] 128 [54] Gamma glutamyl ...
The clinical laboratory evaluation of rickets begins with assessment of serum calcium, phosphate, and alkaline phosphatase levels. In hypophosphatemic rickets, calcium levels may be within or slightly below the reference range; alkaline phosphatase levels will be significantly above the reference range.Biochemically, XLH is recognized by ...
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.
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Elevated alkaline phosphatase occurs when levels of alkaline phosphatase (ALP) exceed the reference range. This group of enzymes has a low substrate specificity and catalyzes the hydrolysis of phosphate esters in a basic environment. The major function of alkaline phosphatase is transporting chemicals across cell membranes. [1]