What is defective 25-hydroxylase?

Updated: Jun 19, 2020
  • Author: Horacio B Plotkin, MD, FAAP; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
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Two cases of 25-hydroxylase deficiency have been reported, one involving a family in the United States and the other involving a family in Germany. Inheritance is likely autosomal recessive. The clinical picture resembles that observed in nutritional rickets, with a later age of onset.

Treatment with calcidiol in physiologic amounts is sufficient for this condition. Calcidiol is a natural metabolite of vitamin D. Calcidiol is hydroxylated once at the 25 position and is the circulating form for vitamin D in plasma.

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