•  
     
     
    Type Size
     

    Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia.

    This study investigated the molecular basis for idiopathic infantile hypercalcemia, which is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It was found that inactivating mutations of CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D(3) degradation were common in affected children.

    http://www.nejm.org/doi/full/10.1056/NEJMoa1103864

    Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, et al