Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p071 | (1) | ICCBH2017

In search of hypophosphatasia: a need to establish normative data for low alkaline phosphatase in pediatric population

Abramowicz Pawel , Konstantynowicz Jerzy , Zelazowska-Rutkowska Beata , Cylwik Bogdan

Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase gene (TNSALP), leading to low alkaline phosphatase (ALP) activity. At least 6 clinical forms of HPP have been reported. Certain benign or asymptomatic presentations of HPP in older children may remain undiagnosed, in contrast to severe perinatal and infantile types. The underlying reason of this diagnostic inconsisten...