Endocrine Abstracts

Hypophosphatasia (HPP) is an inherited systemic metabolic bone disease occurring due to mutations in the ALPL gene which encodes for tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone mineralisation due to accumulation of inorganic pyrophosphate (PPi). The perinatal form of this condition lays at the most severe end of the spectrum. Enzyme replacement therapy with asfotase alfa, a recombinant fusion protein that includes the catalytic domain...