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
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author Zamanfar, Daniel
Ghazaiean, Mobin
author_facet Zamanfar, Daniel
Ghazaiean, Mobin
author_sort Zamanfar, Daniel
collection PubMed
description 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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spelling pubmed-99848742023-03-05 An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature Zamanfar, Daniel Ghazaiean, Mobin Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-03-04 /pmc/articles/PMC9984874/ /pubmed/36879673 http://dx.doi.org/10.1002/ccr3.7007 Text en © 2023 Mazandaran University of Medical Sciences. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Zamanfar, Daniel
Ghazaiean, Mobin
An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title_full An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title_fullStr An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title_full_unstemmed An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title_short An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
title_sort overview of cyp27b1 enzyme mutation and management: a case report and review of the literature
topic Case Report
url 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
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