Hereditary Deficiencies in Vitamin D Action

Uri A. Liberman*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Hereditary deficiencies in vitamin D action can be caused by disturbances in the synthesis of the hormonal form of the vitamin, 1, 25-dihydroxyvitamin D (1, 25(OH)2 D calcitriol), or defects in the interaction of calcitriol and its target tissues. This chapter deals with the hereditary defects in the renal 25-hydroxyvitamin D-1 α–hydroxylase activity. Although rare, the importance of studying hereditary deficiency of vitamin D stems from the fact that they represent a naturally occurring experimental model that helps to elucidate the function and importance of vitamin D and the VDR–effector system in humans in vivo. Hereditary defects along the cascade of 1, 25(OH)2 D synthesis lead to a deficiency in the vitamin D hormonal form. Regarding interaction with the target tissue, calcitriol effects are mediated via a high-affinity intracellular receptor: the vitamin D receptor (VDR). VDR acts as a ligand-modulated transcription factor that belongs to the steroid, thyroid, and retinoic acid receptors gene family. Thus, hereditary defects in the interaction of calcitriol and its target tissues could evolve from defects in hormone binding to VDR, defects in the heterodimerization with RXR or the interaction of the receptor complexes with DNA, or defects in the transcription modulation function.

Original languageEnglish
Title of host publicationPrinciples of Bone Biology
Subtitle of host publicationVolume 1-2, Third Edition
Number of pages16
ISBN (Electronic)9780123738844
StatePublished - 1 Jan 2008


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