Metabolism of Vitamin D<sub>3</sub>-<sup>3</sup>H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia

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

doi:10.1172/JCI105680

^{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

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.