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Vitamin D deficiency and disorders of vitamin D metabolism
1Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
Abstract:
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.
Insights
Inherited vitamin D metabolism disorders, though rare, reveal vitamin D's crucial roles. Widespread vitamin D deficiency, especially in the elderly, necessitates broader screening beyond known risk factors.
Area of Science:
- Endocrinology
- Metabolic disorders
- Molecular genetics
Background:
- Disorders of vitamin D metabolism stem from inherited mutations affecting the vitamin D receptor or key metabolic enzymes.
- These genetic defects disrupt the conversion of vitamin D to its active form, 1,25-dihydroxyvitamin D.
- Research in affected individuals and animal models has elucidated vitamin D's critical functions and mechanisms of action.
Purpose of the Study:
- To summarize the understanding of inherited vitamin D metabolism disorders.
- To highlight the growing prevalence of vitamin D deficiency in the general population, particularly among the elderly.
- To advocate for expanded screening protocols for vitamin D deficiency.
Main Methods:
- Review of studies on patients with inherited vitamin D metabolism disorders.
- Analysis of data from animal models of vitamin D metabolism defects.
- Epidemiological data on vitamin D deficiency prevalence.
Main Results:
- Mutations in vitamin D metabolism pathways, while rare, provide insights into vitamin D's biological significance.
- Vitamin D deficiency is a common and increasing health concern across various demographics.
- Current screening practices, limited to high-risk individuals, miss a substantial number of deficient patients.
Conclusions:
- Understanding rare genetic disorders enhances knowledge of vitamin D's physiological importance.
- Vitamin D deficiency represents a significant public health issue requiring attention.
- Broadening screening criteria for vitamin D deficiency is essential for effective diagnosis and management.