Vitamin D deficiency and disorders of vitamin D metabolism

Endocrinol Metab Clin North Am. 2000 Sep;29(3):611-27, viii. doi: 10.1016/s0889-8529(05)70153-5.


The disorders of vitamin D metabolism are inherited metabolic abnormalities involving mutations of the vitamin D receptor or enzymes involved in the metabolism of vitamin D to its biologically active form 1,25-dihydroxyvitamin D. Although these mutations are rare, studies in affected patients and animal models have helped to identify critical actions of vitamin D and the mechanism by which it exerts its effects. Vitamin D deficiency, however, is an increasingly recognized problem among the elderly and in the general population. Screening for vitamin D deficiency only in those patients with known risk factors will result in a large proportion of unrecognized affected patients.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Cholestanetriol 26-Monooxygenase
  • Female
  • Humans
  • Hypocalcemia / drug therapy
  • Hypocalcemia / etiology
  • Male
  • Prevalence
  • Risk Factors
  • Steroid Hydroxylases / deficiency
  • Vitamin D / metabolism*
  • Vitamin D Deficiency / epidemiology
  • Vitamin D Deficiency / metabolism*


  • Vitamin D
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase