Vitamin D deficiency and disorders of vitamin D metabolism.
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.
Thomas
M K
MK
Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
Demay
M B
MB
D053493:Cholestanetriol 26-Monooxygenase; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000188:drug therapy / Q000209:etiology; D008297:Male; D015995:Prevalence; D012307:Risk Factors; D013250:Steroid Hydroxylases / Q000172:deficiency; D014807:Vitamin D / Q000378:metabolism*; D014808:Vitamin D Deficiency / Q000453:epidemiology / Q000378:metabolism*
D014807:Vitamin D; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase