Bone Abstracts

Background: 1α-hydroxylase is a mitochondrial P450 enzyme critical to the synthesis of active calcitriol from the pro-hormone 25(OH) D. Multiple different mutations in the CYP27B1 gene have been identified that abolish or reduce 1α-hydroxylase enzymatic activity resulting in vitamin D dependent rickets type 1. Children with 1α-hydroxylase deficiency present with a clinical picture of joint pain and deformity, hypotonia, muscle weakness, growth failure and someti...