Skip to main content

Inherited and Acquired Disorders of Vitamin D Metabolism

  • Chapter
Regulation of Phosphate and Mineral Metabolism

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 151))

Abstract

Many human diseases have previously been characterized by their sensitivity or resistance to vitamin D, although direct information about mechanisms has been lacking. The development and application of radioisotopic materials and specific quantitative assays for vitamin D sterols have permitted direct analyses of vitamin D metabolism in patients affected by these diseases. Since there have been reviews of vitamin D metabolism in recent years (1–3), I shall confine this review to more recent studies of conditions which reflect inherited or birth-related, and acquired difficulties in vitamin D sterols’ supply, metabolism and biological effects.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. D.R. Fraser, Regulation of the metabolism of vitamin D, Phys. Revs. 60:551 (1980).

    CAS  Google Scholar 

  2. H.F. DeLuca, and H. Schnoes, Metabolism and mechanics of action of vitamin D, Ann. Rev. Biochem. 929:631 (1977).

    Google Scholar 

  3. M. Haussler, and T. McCain, Basic and clinical concepts related to vitamin D metabolism and action, New Eng. J. Med. 297:974 and 1041 (1977).

    Article  CAS  Google Scholar 

  4. R. Bouillon, F. Van Assche, H. Van Baelen, W. Heyns, and P. De Moor, Influence of the vitamin D binding protein on the serum concentration of 1,25-(OH)2D, J. Clin. Invest. 67:589 (1981).

    Article  PubMed  CAS  Google Scholar 

  5. L.S. Hillman, S. Rojanasathit, E. Slatopolsky, and J. Haddad, Serial measurements of serum calcium, magnesium, parathyroid hormone, calcitonin and 25-OHD in premature and term infants during the first week of life, Ped. Res. 11:739 (1977).

    Article  CAS  Google Scholar 

  6. L. Hillman, and J. Haddad, Perinatal vitamin D metabolism. I. 25-OHD in maternal and cord blood, J. Pediat. 84:742 (1974).

    Article  PubMed  CAS  Google Scholar 

  7. M. Moncrieff, and T. Fadahunsi, Congenital rickets due to maternal vitamin D deficiency, Arch. Dis. Child 49:810 (1974).

    Article  PubMed  CAS  Google Scholar 

  8. J.C.L. Shaw, Evidence for defective skeletal mineralization in low-birth weight infants: the absorption of calcium and fat, Pediat. 57:16 (1976).

    CAS  Google Scholar 

  9. L. Hillman, and J. Haddad, Perinatal vitamin D metabolism. II. Serial 25-OHD concentrations in sera of term and premature infants, J. Pediat. 86:928 (1975).

    Article  PubMed  CAS  Google Scholar 

  10. N. Hoff, J. Haddad, S. Teitelbaum, W. McAlister, and L. Hillman, Serum concentrations of 25-OHD in rickets of extremely premature infants, J. Pediat. 94:460 (1979).

    Article  PubMed  CAS  Google Scholar 

  11. D. Fraser, and C.R. Scriver, Familial forms of vitamin D-resistant rickets revisited: x-linked hypophosphatemia and autosomal recessive vitamin D dependency, Am. J. Clin. Nutr. 29: 1315 (1976).

    PubMed  CAS  Google Scholar 

  12. C.R. Scriver, T.M. Reade, H.F. DeLuca, and A.J. Hamstra, Serum 1,25-(OH)2D levels in normal subjects and in patients with hereditary rickets or bone disease, New Eng. J. Med. 229:976 (1978).

    Article  Google Scholar 

  13. E. Devlin, F. Glorieux, P. Marie, and J. Pettifor, Vitamin D dependency; replacement therapy with calcitriol, J. Pediat. 99:26 (1981).

    Article  Google Scholar 

  14. M. Brooks, N. Bell, L. Love, P. Stern, E. Orfei, S. Queener, A. Hamstra, and H. DeLuca, Vitamin D-dependent rickets type II. resistance of target organs to 1,25(OH)2D3, New Eng. J. Med. 298:996 (1978).

    Article  PubMed  CAS  Google Scholar 

  15. S. Marx, A. Spiegel, E. Brown, D. Gardner, R. Sowns, M. Attie, A. Hamstra, and H. DeLuca, A familial syndrome of decrease in sensitivity to 1,25-(OH)2D3, J. Clin. Endocrinol. Metab. 47: 1303 (1978).

    Article  PubMed  CAS  Google Scholar 

  16. J. Rosen, A. Fleischman, L. Finberg, A. Hamstra, and H. De Luca, Rickets with alopecia: an inborn error of vitamin D metabolism, J. Pediat. 94:729 (1979).

    Article  PubMed  CAS  Google Scholar 

  17. Y. Tsuchiya, N. Matsuo, H. Cho, M. Kumagai, A. Yasaka, T. Suda, H. Orimo, and M. Shiraki, An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D, J. Clin. Endocrinol. Metab. 51:685 (1980).

    Article  PubMed  CAS  Google Scholar 

  18. C. Eil, and S. Marx, Nuclear uptake of {3H}1,25-(OH)2D3 in dispersed fibroblasts cultwad from normal human skin, Proc. Natl. Acad. Sci. U.S.A. 78:2562 (1981).

    Article  PubMed  CAS  Google Scholar 

  19. D. Feldman, T. Chen, M. Huist, K. Colston, K. Karasek, and C. Cone, Demonstration of 1,25-(OH)2D3 receptors in human skin biopsies, J. Clin. Endocrinol. Metab. 51:1463 (1980).

    Article  PubMed  CAS  Google Scholar 

  20. C. Eil, U. Liberman, J. Rosen, and S. Marx, A cellular defect in hereditary vitamin D-dependent rickets Type II: defective nuclear uptake of 1,25-(OH)2D in cultured fibroblasts, New Eng. J. Med. 304:1588 (1981).

    Article  PubMed  CAS  Google Scholar 

  21. J. Haddad, K. Chyu, T. Hahn, and T.C.B. Stamp, Serum concentrations of 25-OHD in sex-linked hypophosphatemic vitamin D-resistant rickets, J. Lab. Clin. Med. 81:22 (1973).

    PubMed  Google Scholar 

  22. J. Dominquez, R. Gray, and J. Lemann, Dietary phosphate deprivation in women and men: effects on mineral and acid balances PTH and the metabolism of 25-OHD, J. Clin. Endocrinol. Metab. 43:1056 (1976).

    Article  Google Scholar 

  23. C. West, J. Blanton, F. Silverman, and N. Holland, Use of phosphate salts as an adjunct to vitamin D in the treatment of hypophosphatemic vitamin D refractory rickets, J. Pediat. 64:469 (1964).

    Article  PubMed  CAS  Google Scholar 

  24. G. Hirschman, H. DeLuca, and J. Chan, Hypophosphatemic vitamin D-resistant tickets: metabolic balance studies in a child receiving 1,25-(OH)2D3, phosphate and ascorbic acid. Pediatrics 61:451 (1978).

    PubMed  CAS  Google Scholar 

  25. H. Rasmussen, M. Pechet, C. Anast, A. Mazur, J. Gertner, and A. Broadus, Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1∝OHD3, J. of Pediat. 99:16 (1981).

    Article  CAS  Google Scholar 

  26. M. Drezner, and M. Feinglos, Osteomalacia due to 1,25-(OH)2D3 deficiency: association with a giant cell tumor of bone,

    Google Scholar 

  27. W.F. Loomis, Rickets, Sci. Amer. 223:77 (1970).

    Article  Google Scholar 

  28. J. Haddad, and K. Chyu, Competitive protein-binding radioassay for 25-OHD3, J. Clin. Endocrinol. Metab. 33:992 (1971).

    Article  PubMed  CAS  Google Scholar 

  29. T.C.B. Stamp, J. Haddad, and C. Twigg, Comparison of oral 25-OHD3, vitamin D and ultraviolet light as determinants of circulating 25-OHD in man, Lancet 1:1341 (1977).

    Article  PubMed  CAS  Google Scholar 

  30. J. Haddad, and S. Rojanasathit, Acute administration of 25-OHD3 in man, J. Clin. Endocrinol. Metab. 42:284 (1976).

    Article  PubMed  CAS  Google Scholar 

  31. G.A. Lamb, and S.W. Stanbury, Parathyroid function in human vitamin D deficiency and vitamin D deficiency in primary hyperparathyroidism, Am. J. Med. 56:833 (1974).

    Article  Google Scholar 

  32. H. Rasmussen, R. Baron, A. Broadus, R. Defronzo, R. Lang, and R. Horst, 1,25-(OH)2D3 is not the only D metabolite involved in the pathogenesis or osteomalacia, Am. J. Med. 69:360 (1980).

    Article  PubMed  CAS  Google Scholar 

  33. S.E. Papaponlos, L. Fraber, T. Clemes, J. Gleed, and J.L. O’Riordan, Metabolites of vitamin D in human vitamin D deficiency: effect of vitamin D3 or 1,25-(OH)2D3, Lancet 2: 612 (1980).

    Article  Google Scholar 

  34. M. Imawari, Y. Akanuma, J. Itakura, Y. Muto, K. Kosaka, and D. Goodman, The effects of diseases of the liver on serum 25-OHD and on the serum binding protein for vitamin D and its metabolites, J. Lab. Clin. Med. 93:171 (1979).

    PubMed  CAS  Google Scholar 

  35. E. Krawitt, M. Grundman, and E.B. Mawer, Absorption, hydroxylation, and excretion of vitamin D3 in primary biliary cirrhosis, Lancet 2:1246 (1977).

    Article  PubMed  CAS  Google Scholar 

  36. L. Mosekilde, F. Meisen, I. Hessov, M. Christensen, B.J. Lund, B.I. Lund, and O.H. Sorensen, Low serum levels of 1,25-(OH) D and histomorphometric evidence of osteomalacia after jejunoileal bypass for obesity, Gut 21:624 (1980).

    Article  PubMed  CAS  Google Scholar 

  37. R. Kumar, The metabolism of 1,25-(OH)2D, Endocrine Reviews 1: 258 (1980).

    Article  PubMed  CAS  Google Scholar 

  38. M. Whyte, J. Haddad, D. Walters, and T.C.B. Stamp, Vitamin D bioavailability: serum 25-OHD levels in man after oral, subcutaneous, intramuscular, and intravenous vitamin D administration. J. Clin. Endocrinol. Metab. 48:906 (1979).

    Article  PubMed  CAS  Google Scholar 

  39. J. Barragry, N. Carter, M. Beer, W. France, J. Auton, B. Boucher, and R. Cohen, Vitamin D metabolism in nephrotic syndrome, Lancet 2:629 (1977).

    Article  PubMed  CAS  Google Scholar 

  40. H. Malluche, D. Goldstein, and S. Massry, Osteomalacia and hyperparathyroid bone disease in patients with nephrotic syndrome, J. Clin. Invest. 63:494 (1979).

    Article  PubMed  CAS  Google Scholar 

  41. M. Drezner, F. Nelson, M. Haussier, H. McPherson, and H. Lebovitz, 1,25-(OH)2D3 deficiency: The probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism, J. Clin. Endocrinol. Metab. 42:62 (1976).

    Article  Google Scholar 

  42. Y. Tanaka, and H. DeLuca, The control of 25-OHD metabolism by inorganic phosphorus, Arch. Biochem. Biophys. 154:566 (1973).

    Article  PubMed  CAS  Google Scholar 

  43. K. Hove, R. Horst, and E. Littledike, PTH and plasma Ca: conflicting signals for regulation of plasma 1,25-(OH)2D levels in PTH-infused calves, Program of the 63rd Endocrine Society Meeting, pg. 122 (1981).

    Google Scholar 

  44. R. Bouillon, E. Muls, and P. DeMoor, Influence of thyroid function on the serum concentration of 1,25-(OH)2D3, J. Clin. Endocrinol. Metab. 51:793 (1980).

    Article  PubMed  CAS  Google Scholar 

  45. A. Stewart, R. Horst, L. Deftos, E. Cadman, R. Lang, and A. Broadus, Biochemical evaluation of patients with cancer-associated hypercalcemia, New Eng. J. Med. 303:1377 (1980).

    Article  PubMed  CAS  Google Scholar 

  46. T. Hahn, B. Hendin, C. Scharp, and J. Haddad, Effect of chronic anticonvulsant therapy on serum 25-OHD levels in adults, New Eng. J. Med. 287:900 (1972).

    Article  PubMed  CAS  Google Scholar 

  47. H. Sherk, M. Cruz, and J. Stambaugh, Vitamin D prophylaxis and the lowered incidence of fractures in anti-convulsant rickets and osteomalacia, Clin. Orthop. & Rel. Res. 129:251 (1977).

    Google Scholar 

  48. P. Stern, J. DeOlazabal, and N. Bell, Evidence for abnormal regulation of circulating 1,25-(OH)2D in patients with sarcoidosis and normal calcium metabolism, J. Clin. Invest. 66:852 (1980).

    Article  PubMed  CAS  Google Scholar 

  49. G. Barbour, J. Coburn, E. Slatopolsky, A. Norman, and R. Horst, Hypercalcemia in an anephric patient with sarcoidosis: evidence for extrarenal generation of 1,25-(OH)2D1, New Eng. J. Med. 305:440 (1981).

    Article  PubMed  CAS  Google Scholar 

  50. A. Caldas, R. Gray, and J. Lemann, The simultaneous measurement of vitamin D metabolites in plasma: studies in healthy adults and in patients with calcium nephrolithiasis, J. Lab. Clin. Med. 91:840 (1978).

    PubMed  CAS  Google Scholar 

  51. Y. Fukumoto, S. Tarin, K. Tsukujama, K. Ichihara, K. Moriwaki, K. Nonaka, T. Mizushima, Y. Kobayashi, S. Dokoh, M. Fukumaga, and R. Marita, Tumor-induced vitamin D-resistant hypophospha-temic osteomalacia associated with proximal renal tubular dysfunction and 1,25-(OH)2D deficiency, J. Clin. Endocrinol. Metab. 49:873 (1979).

    Article  PubMed  CAS  Google Scholar 

  52. F. Llach, A. Felsenfeld, and M. Haussler, The pathophysiology of altered calcium metabolism in rhabdomyolysis-induced acute renal failure, New Eng. J. Med. 305:117 (1981).

    Article  PubMed  CAS  Google Scholar 

  53. R. Horst, H. DeLuca, and N. Jorgensen, The effect of age on calcium absorption and accumulation of 1,25-(OH)2D3 in intestinal mucosa of rats, Metab. Bone Dis. Relat. Res. 1:29 (1978).

    Article  CAS  Google Scholar 

  54. H. Armbrecht, T. Zenser, and B. Davis, Effect of age on the conversion of 25-OHD3 to 1,25-(OH)2D3 by kidney of rat, J. Clin. Invest. 66:1118 (1980).

    Article  PubMed  CAS  Google Scholar 

  55. J. Haddad, and J. Walgate, Radioimmunoassay of the binding protein for vitamin D and its metabolites in human serum. Concentrations in normal subjects and patients with disorders of mineral homeostasis, J. Clin. Invest. 58:1217 (1976).

    Article  PubMed  CAS  Google Scholar 

  56. J. Gallagher, and B.E.C. Nordin, Treatment with estrogens of primary hyperparathyroidism in postmenopausal women, Lancet, 1:503 (1972).

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1982 Plenum Press, New York

About this chapter

Cite this chapter

Haddad, J.G. (1982). Inherited and Acquired Disorders of Vitamin D Metabolism. In: Massry, S.G., Letteri, J.M., Ritz, E. (eds) Regulation of Phosphate and Mineral Metabolism. Advances in Experimental Medicine and Biology, vol 151. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4259-5_40

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-4259-5_40

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-4261-8

  • Online ISBN: 978-1-4684-4259-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics