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Genetic Diseases of Vitamin D Metabolizing Enzymes

Abstract : Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1α-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D3 to the hormonal form, 1,25-(OH)2D3, and the inactivation of 1,25-(OH)2D3 to biliary excretory products. Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)2D3 synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)2D3 and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis. This article reviews the literature for 3 clinical conditions. Symptoms, diagnosis, treatment, and management of vitamin D-dependent rickets and idiopathic infantile hypercalcemia are discussed.
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Glenville Jones, Marie-Laure Kottler, Karl Peter Schlingmann. Genetic Diseases of Vitamin D Metabolizing Enzymes. Endocrinology and Metabolism Clinics of North America, WB Saunders, 2017, 46 (4), pp.1095-1117. ⟨10.1016/j.ecl.2017.07.011⟩. ⟨hal-02421610⟩



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