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Research Article Free access | 10.1172/JCI105680

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

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

Department of Medicine, Washington University School of Medicine, St. Louis, Missouri

Department of Jewish Hospital of St. Louis, St. Louis, Missouri

Department of Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina

Department of Biochemistry, University of Wisconsin, Madison, Wisconsin

‡

Career Research Development Awardee (7-K3-GM-22 676-03).

Address requests for reprints to Dr. Louis V. Avioli, The Jewish Hospital of St. Louis, 216 South Kingshighway, St. Louis, Mo. 63110.

*

Received for publication 1 May 1967 and in revised form 7 August 1967.

Supported in part by Grants AM06404, AM11674, and AM05800 from the National Institute of Arthritis and Metabolic Diseases.

Find articles by Avioli, L. in: PubMed | Google Scholar

Department of Medicine, Washington University School of Medicine, St. Louis, Missouri

Department of Jewish Hospital of St. Louis, St. Louis, Missouri

Department of Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina

Department of Biochemistry, University of Wisconsin, Madison, Wisconsin

‡

Career Research Development Awardee (7-K3-GM-22 676-03).

Address requests for reprints to Dr. Louis V. Avioli, The Jewish Hospital of St. Louis, 216 South Kingshighway, St. Louis, Mo. 63110.

*

Received for publication 1 May 1967 and in revised form 7 August 1967.

Supported in part by Grants AM06404, AM11674, and AM05800 from the National Institute of Arthritis and Metabolic Diseases.

Find articles by Williams, T. in: PubMed | Google Scholar

Department of Medicine, Washington University School of Medicine, St. Louis, Missouri

Department of Jewish Hospital of St. Louis, St. Louis, Missouri

Department of Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina

Department of Biochemistry, University of Wisconsin, Madison, Wisconsin

‡

Career Research Development Awardee (7-K3-GM-22 676-03).

Address requests for reprints to Dr. Louis V. Avioli, The Jewish Hospital of St. Louis, 216 South Kingshighway, St. Louis, Mo. 63110.

*

Received for publication 1 May 1967 and in revised form 7 August 1967.

Supported in part by Grants AM06404, AM11674, and AM05800 from the National Institute of Arthritis and Metabolic Diseases.

Find articles by Lund, J. in: PubMed | Google Scholar

Department of Medicine, Washington University School of Medicine, St. Louis, Missouri

Department of Jewish Hospital of St. Louis, St. Louis, Missouri

Department of Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina

Department of Biochemistry, University of Wisconsin, Madison, Wisconsin

‡

Career Research Development Awardee (7-K3-GM-22 676-03).

Address requests for reprints to Dr. Louis V. Avioli, The Jewish Hospital of St. Louis, 216 South Kingshighway, St. Louis, Mo. 63110.

*

Received for publication 1 May 1967 and in revised form 7 August 1967.

Supported in part by Grants AM06404, AM11674, and AM05800 from the National Institute of Arthritis and Metabolic Diseases.

Find articles by DeLuca, H. in: PubMed | Google Scholar

Published December 1, 1967 - More info

Published in Volume 46, Issue 12 on December 1, 1967
J Clin Invest. 1967;46(12):1907–1915. https://doi.org/10.1172/JCI105680.
© 1967 The American Society for Clinical Investigation
Published December 1, 1967 - Version history
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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.

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