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ey0015.5-3 | New genes and gene mutations | ESPEYB15

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

JD Roizen , D Li , L O'Lear , MK Javaid , NJ Shaw , PR Ebeling , HH Nguyen , CP Rodda , KE Thummel , TD Thacher , H Hakonarson , MA Levine

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

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ey0016.13-16 | Micronutrients | ESPEYB16

13.16. Global prevalence and disease burden of vitamin D deficiency: a roadmap for action in low- and middle-income countries

DE Roth , SA Abrams , J Aloia , G Bergeron , MW Bourassa , KH Brown , MS Calvo , KD Cashman , G Combs , LM De-Regil , ME Jefferds , KS Jones , H Kapner , AR Martineau , LM Neufeld , RL Schleicher , TD Thacher , SJ Whiting

Ann N Y Acad Sci. 2018 Oct;1430(1):4479. DOI: 10.1111/nyas.13968 This technical report reviews the global prevalence and public health disease burden of vitamin D deficiency. Funded by the Bill & Melinda Gates foundation, the working group of content experts from North America and Europe provide a roadmap outlining population-based strategies to impr...

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ESPE Yearbook of Paediatric Endocrinology

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

13.16. Global prevalence and disease burden of vitamin D deficiency: a roadmap for action in low- and middle-income countries

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