CYP3A4 mutation causes vitamin D-dependent rickets type 3.

  title={CYP3A4 mutation causes vitamin D-dependent rickets type 3.},
  author={Jeffrey D Roizen and Dong Li and Lauren O'Lear and Muhammad Kassim Javaid and Nicholas M. Shaw and Peter R. Ebeling and H H Nguyen and Christine P Rodda and Kenneth E. Thummel and Thomas D. Thacher and Hakon Hakonarson and Michael A Levine},
  journal={The Journal of clinical investigation},
  volume={128 5},
Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. Neither patient had a mutation in any genes known to cause VDDR; however, using whole exome sequencing… CONTINUE READING
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CYP 3 A 4 induction by Rifampin : an alternative pathway for vitamin D inactivation in patients with CYP 24 A 1 mutations

C Dutreix, S Lorenzo, Y Wang
  • J Clin Endocrinol Metab
  • 2017

Comparison of two endogenous biomarkers of CYP 3 A 4 activity in a drug - drug interaction study between mido - staurin and rifampicin

U Diczfalusy
  • Eur J Clin Pharmacol
  • 2014

Human PXR - mediated induction of intestinal CYP 3 A 4 attenuates 1 α , 25 - dihy - droxyvitamin D ( 3 ) function in human colon adenocarcinoma LS 180 cells

RP Gupta, YA He, KS Patrick, Halpert, NH Bell
  • Biochem Pharmacol
  • 2012

Simultaneous measurement of plasma vitamin D ( 3 ) metabolites , including 4 β , 25 - dihydroxyvitamin D ( 3 ) , using liquid chromatography - tandem mass spectrometry

CP Hawkes, D Li, +3 authors MA Levine
  • Anal Biochem
  • 2011

Comparison of Metabolism of Vitamins D2 and D3 in Children With Nutritional Rickets

  • Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2010