Genetic Diseases of Vitamin D Metabolizing Enzymes.

Glenville Jones, Marie Laure Kottler, Karl Peter Schlingmann

Journal: Endocrinology and metabolism clinics of North America 2018;46(4):1095-1117

PMID: 29080636

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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 D to the hormonal form, 1,25-(OH)D, and the inactivation of 1,25-(OH)D to biliary excretory products. Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)D synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)D 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.

Address: Department of Biomedical and Molecular Sciences, Queen's University, Room 650, Botterell Hall, Kingston, ON K7L 3N6, Canada. Electronic address: [email protected].; Department of Genetics, University de Basse-Normandie, National Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, Caen University Hospital, Avenue de la Côte de Nacre, 14033 Caen, France; Team 7450 BIOTARGEN, Caen-Normandy University, Esplanade de la Paix, 14032 Caen, France.; Department of General Pediatrics, University Children's Hospital, Waldeyerstr. 22, D-48149 Muenster, Germany.

DOI: 10.1016/j.ecl.2017.07.011

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MeSH Terms: Cholestanetriol 26-Monooxygenase, Cytochrome P450 Family 2, Humans, Hypercalcemia, Infant, Newborn, Diseases, Metabolism, Inborn Errors, Mutation, Rickets, Vitamin D3 24-Hydroxylase