Hypophosphatasia (HPP) is a genetic disease characterized by defective calcification of hard tissues such as bone and teeth accompanying deficiency of serum alkaline phosphatase (ALP) activity. Its development results from various mutations in the ALPL gene encoding tissue-nonspecific ALP (TNSALP).
Hypophosphatasia is a serious enzymatic defect, where the serum alkaline phosphatase is considerably diminished or completely absent. The urine or serum contain excessive quantities of phosphoethanolamine.. The illness manifests itself with severe disorder of mineralisation in the skeletal system.
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