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Hypophosphatasia: patients need regular, comprehensive and professional care

MedExpress Team

Medexpress

Published June 29, 2023 08:00

Hypophosphatasia: patients need regular, comprehensive and professional care - Header image
Congenital hypophosphatasia is an ultra-rare inborn metabolic defect that is caused by a deficiency in the activity of an important enzyme, alkaline phosphatase, says Jolanta Sykut-Cegielska, MD, IMiD professor, head of the Department of Inborn Metabolic Defects and Pediatrics at the Mother and Child Institute, and national consultant in metabolic pediatrics.

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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