Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization.

摘要: THIS year marks the 70th anniversary of discovery alkaline phosphatase (ALP) (1). For greater part past seven decades there has been universal appreciation by physicians important clinical insight that comes from measuring ALP activity in serum to detect and follow course hepatobiliary skeletal disease (2). Since 1930s, quantification a routine test hospital laboratory it is likely most frequently performed enzyme assay Nevertheless, physiological function this protein ubiquitous nature remains unclear (1, 3–5). As reviewed here, however, recent molecular studies hypophosphatasia, rare heritable form rickets, have confirmed long-held notion significant role mineralization humans. How acts was clarified discoveries several phosphocompound substrates for tissue-nonspecific (TNSALP) accumulate endogenously inborn error metabolism.