Hypophosphatasia - what is the disease and what are its symptoms?
J.S.C.: This is an ultra-rare inborn metabolic defect caused by a deficiency of non-specific tissue alkaline phosphatase activity. The deficiency of this enzyme is caused by a gene change. There are various possible variants that are the root cause of this very rare disease. Its symptoms can be extremely varied. Because we have several forms of hypophosphatasia.
The severe form occurs when the child is already sick in the womb, that is, before it is born. In this so-called perinatal form, very severe bone deformities occur, and the child is often stillborn or dies soon after birth....
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