hrp0089p3-p181 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Population Screening of Hypophosphatasia. A Metabolopathy to Consider. National Multicentric Study

Aldamiz-Echevarria Koldo , Diez-Lopez Ignacio , Arranz Leonor , Garcia-Barcina MJ

Hypophosphatasia is a congenital disease, characterized by a defect in bone and dental mineralization, secondary to a deficiency in the biosynthesis of the non-specific tissue isoenzyme of bone, liver and kidney alkaline phosphatase (TNSALP). Clinical phenotype varies with age and its clinical expression is sometimes very latent. There is a small but significant number of pediatric patients NOT diagnosed with hypophosphatasia. The values of low phosphatases may go unnoticed in...