Abstract
Objective: Hypophosphatasia (Hpp) is a rare inborn error of metabolism caused by mutation in the 9ene 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 9ravity and a9e at presentation we distin9uish 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.