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 the epiphysis (similar to rickets) may occasionally occur. Patients who survive childhood, have bone deformities and short stature. However, the mental development is normal.

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 the epiphysis (similar to rickets) may occasionally occur. Patients who survive childhood, have bone deformities and short stature. However, the mental development is normal. There is no effective treatment, but infusions of alkaline phosphatase and bone marrow transplantation play a limited role. Vitamin B6 can reduce seizures in high doses; 50-100 mg i.v. optionally 1 time during an acute attack, followed by 50-100 mg p.o. 1 times daily). NSAIDs decrease bone pain.

Health Life Media Team

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