Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

doi:10.1002/jbmr.3181

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Article

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2017

Molin Arnaud, Wiedemann Arnaud, Demers Nick, Kaufmann Martin, Do Cao Jérémy, Mainard Laurent, Dousset Brigitte, Journeau Pierre, Abeguile Geneviève, Coudray Nadia, Mittre Hervé, Richard Nicolas, Weryha Georges, Sorlin Arthur, Jones Glenville, Kottler Marie-Laure, Feillet Francois

Abstract excerpt

Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect...

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PMID: 28548312
DOI: 10.1002/jbmr.3181

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