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

Daniel Zamanfar; Mobin Ghazaiean

doi:10.1002/ccr3.7007

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

Clin Case Rep. 2023 Mar 4;11(3):e7007. doi: 10.1002/ccr3.7007. eCollection 2023 Mar.

Authors

Daniel Zamanfar¹, Mobin Ghazaiean²

Affiliations

¹ Pediatric Endocrinologist, Diabetes Research Center of Mazandaran Mazandaran University of Medical Sciences Sari Iran.
² Student Research Committee Mazandaran University of Medical Sciences Sari Iran.

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; CYP27B1 gene; VDDR1A; autosomal recessive mutation; rickets.

Publication types

Case Reports