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

Abstract

Abstract Vitamin D‐dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha‐hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorders and discuss about the mutation and its management.

Keywords

• 125‐dihydroxyvitamin D
• autosomal recessive mutation
• CYP27B1 gene
• rickets
• VDDR1A