An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature

Abstract

Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disease caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene encoding the enzyme 1 alpha-hydroxylase. We report a known VDDRIA case presenting with hypotonia, growth and developmental disorders.