Endocrine Abstracts

Hypophosphatasia (HPP) is a rare inherited disorder caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. HPP B is a multisystemic B disorder with a predominantly B skeletal phenotype, with a clinical spectrum ranging from high lethality in early onset (<6 months) HPP to mild late-onset presentations. HPP skeletal disease in utero was thought to predict a lethal outcome. However a benign prenatal form (PB HPP) with a mild postna...