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

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 disorde...

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Detalles Bibliográficos
Autores principales: Zamanfar, Daniel, Ghazaiean, Mobin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984874/
https://www.ncbi.nlm.nih.gov/pubmed/36879673
http://dx.doi.org/10.1002/ccr3.7007
Descripción
Sumario: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.

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