Hypofosfatázie - vzácné onemocnění s možností nové terapie

Title in English Hypophosphatasia - rare disease with new therapies
Authors

PAPEŽ Jan PROCHÁZKOVÁ Dagmar VINOHRADSKÁ Hana KŘEPELOVÁ Anna MECHL Marek KOLBOVÁ Lucie KONEČNÁ Petra NOVOTNÁ Dana DOLEŽEL Zdeněk

Year of publication 2016
Type Article in Periodical
Magazine / Source Pediatria
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.amedi.sk
Field Paediatry
Keywords hypophosphatasia alkaline phosphatase
Description Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by mutation in the gene ALPL that encodes the tissue nonspecific alkaline phosphatase (TNSALP). The low serum TNSALP activity leads to impaired skeletal and dental mineralization. The clinical presentation of HPP is highly variable, ranging from death in utero to teeth problems and osteopenia in adulthood. Based on clinical gravity and age at presentation we distinguish six subtypes of HPP. Nowadays there is recombinant alkaline phospatase available as an enzyme replacement therapy.

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