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Metabolism of Vitamin D3-3H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia
Louis V. Avioli, … , Judith Lund, Hector F. DeLuca
Louis V. Avioli, … , Judith Lund, Hector F. DeLuca
Published December 1, 1967
Citation Information: J Clin Invest. 1967;46(12):1907-1915. https://doi.org/10.1172/JCI105680.
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Research Article

Metabolism of Vitamin D3-3H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia

Abstract

The fate of an intravenous dose of tritiated vitamin D3 was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a decrease in the plasma fractional turnover rate, a marked increase in plasma water-soluble metabolites, and a relative decrease in the conversion of vitamin D to a polar, biologically active metabolite. Alterations in vitamin D metabolism in the adults with persistent hypophosphatemia were similar but less severe than those of affected children with vitamin D-resistant rickets. It is tentatively concluded that the abnormalities in vitamin D metabolism documented in patients with vitamin D-resistant rickets and familial hypophosphatemia may account for the observed osseous and biochemical changes.

Authors

Louis V. Avioli, T. Franklin Williams, Judith Lund, Hector F. DeLuca

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