hrp0086p1-p116 | Bone & Mineral Metabolism P1 | ESPE2016

Clinical and Molecular Characterization of 25-Hydroxylase Deficiency in Saudi Patients

Imtiaz Faiqa , Bakhamis Sarah , AlSagheir Osamah , AlRajhi Abdulrahman

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...