Jan Papež, Dagmar Procházková, Hana Vinohradská, Anna Křepelová, Marek Mechl, Lucie Kolbová, Petra Konečná, Dana Novotná, Zdeněk Doležel
Objective: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by mutation in the gene ALPL 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.
Conclusions: We present the first case of childhood HPP at our clinic.