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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 ...
Transient hyperphosphataemia is a benign condition in infants, and can reach normal level in 4 months. In contrast, low levels of ALP is found in hypothyroidism, pernicious anemia, zinc deficiency, and hypophosphatasia. [6] ALP activity is significantly increased in the third trimester of pregnancy. [11]
The major factor is an abnormally low vitamin D concentration in blood serum. [13] Major typical biochemical findings include: [19] Low serum and urinary calcium; Low serum phosphate, except in cases of renal osteodystrophy; Elevated serum alkaline phosphatase (due to an increase in compensatory osteoblast activity)
Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. [2] Prevention for exclusively breastfed babies is vitamin D supplements. [5] Otherwise, treatment depends on the underlying cause. [2] If due to a lack of vitamin D, treatment is usually with vitamin D and ...
In adults and children age 2 and older, use it only on the neck and chest to ease coughing during a cold, per the Mayo Clinic. Vicks VapoRub is made of ingredients such as camphor, eucalyptus oil ...
Biochemical studies reveal hypophosphatemia (low blood phosphate), elevated alkaline phosphatase and low serum 1,25 dihydroxyvitamin D levels. Routine laboratory tests may not include serum phosphate levels and this can result in considerable delay in diagnosis. Even when low phosphate is measured, its significance is often overlooked.