Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

Introduction: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosi...

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Main Authors: Tomás P Griffin, Caroline M Joyce, Sumaya Alkanderi, Liam M Blake, Derek T O’Keeffe, Delia Bogdanet, Md Nahidul Islam, Michael C Dennedy, John E Gillan, John J Morrison, Timothy O’Brien, John A Sayer, Marcia Bell, Paula M O’Shea
Format: Article
Language:English
Published: Bioscientifica 2020-06-01
Series:Endocrine Connections
Subjects:
vitamin d
cyp24a1 mutation
hypercalcaemia
hypervitaminosis d
genetic mutation
phenotype
Online Access:https://ec.bioscientifica.com/view/journals/ec/9/6/EC-20-0150.xml

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https://ec.bioscientifica.com/view/journals/ec/9/6/EC-20-0150.xml

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