Congenital Hypophosphatasia

Congenital hypophosphatasia is the absence or the lack of alkaline phosphatase in serum, due to mutations in a gene encoding the non-specific alkaline phosphatase. Since the alkaline phosphatase is missing or reduced Ca ++ can not be diffusely deposited in bone and causes low bone density and hypercalcemia. Alkaline Phosphatasemängel also cause a lack of intracellular pyridoxine (vitamin B6), which causes generalized seizures. Vomiting, lack of weight gain, increase in…

September 3, 2018
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