Fig. 1
From: Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia
Pathogenic variants of the ALPL gene (1p36.12) cause low or absent serum alkaline phosphatases (ALPs). A deficiency of ALP is responsible for elevated pyridoxal-5’-phosphate levels, hypercalcemia, and ineffectiveness in bone mineralization, which leads to bone fragility and reduced density, rickets, and osteomalacia (created with BioRender.com)