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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.
Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role in bone mineralization. Asfotase alfa is a recombinant glycoprotein that contains the catalytic domain (the active site) of TNSALP. It is thus a form of enzyme replacement therapy. [5] [12]
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 ...
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 ...
Whooping cough has been surging in the United States for months and the latest data from the US Centers for Disease Control and Prevention suggests there are no signs of slowing.
Treatment efforts may involve many clinical and diagnostic manoeuvers, such as trying to decrease phosphate, [7] normalize vitamin D (calcidiol levels) or decrease PTH and/or alkaline phosphatase levels. [8] However, there is an important lack of randomized clinical studies and recent guidelines (KDIGO 2017) have been recently released on the ...
Chia seeds are tiny and round, and come in colors like black, brown, and white. They’re a member of the mint family. (Getty Images)