An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
oleh: Daniel Zamanfar, Mobin Ghazaiean
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2023-03-01 |
Deskripsi
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.