St-Arnaud R, Jones G (2024) Chapter 5: CYP24A1: Structure, function and physiological role. In: Hewison M et al (eds) Vitamin D, 5th edn. Elsevier, San Diego, CA

Google Scholar 

Lightwood R, Stapleton T (1953) Idiopathic hypercalcaemia in infants. Lancet (London, England) 265:255–256

Article  CAS  PubMed  Google Scholar 

Stapleton T, Macdonald WB, Lightwood R (1957) The pathogenesis of idiopathic hypercalcemia in infancy. Am J Clin Nutr 5:533–542

Article  CAS  PubMed  Google Scholar 

Cetani F, Cappellani D, Brancatella A, Jones G, Marcocci C (2024) Chapter 69: Infantile hypercalcemia and CYP24A1 mutations. In: Hewison M et al (eds) Vitamin D, 5th edn. Elsevier, San Diego, CA

Google Scholar 

Fanconi G (1951) Chronic disorders of calcium and phosphate metabolism in children. Schweizerische medizinische Wochenschrift 81:908–913

CAS  PubMed  Google Scholar 

Williams JC, Barratt-Boyes BG, Lowe JB (1961) Supravalvular aortic stenosis. Circulation 24:1311–1318

Article  CAS  PubMed  Google Scholar 

Beuren AJ, Apitz J, Harmjanz D (1962) Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26:1235–1240

Article  CAS  PubMed  Google Scholar 

Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M (2011) Mutations of CYP24A1 and idiopathic infantile hypercalcemia. New Engl J Med 365:410–421

Article  CAS  PubMed  Google Scholar 

Tebben PJ, Singh RJ, Kumar R (2016) Vitamin D-mediated hypercalcemia: mechanisms diagnosis, and treatment. Endocr Rev 37:521–547

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cappellani D, Brancatella A, Morganti R, Borsari S, Baldinotti F, Caligo MA, Kaufmann M, Jones G, Marcocci C, Cetani F (2021) Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review. Eur J Endocrinol 186:137–149

Article  PubMed  Google Scholar 

Cappellani D, Brancatella A, Kaufmann M, Minucci A, Vignali E, Canale D, De Paolis E, Capoluongo E, Cetani F, Jones G, Marcocci C (2019) Hereditary hypercalcemia caused by a homozygous pathogenic variant in the CYP24A1 gene: a case report and review of the literature. Case Rep Endocrinol 2019:4982621

PubMed  PubMed Central  Google Scholar 

Streeten EA, Zarbalian K, Damcott CM (2011) CYP24A1 mutations in idiopathic infantile hypercalcemia. New Engl J Med 365:1741–1742

Article  CAS  PubMed  Google Scholar 

Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vanthygem MC, Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N, Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler M-L (2015) CYP24A1 Mutations in a cohort of hypercalcemic patients: evidence for a recessive trait. J Clin Endocrinol Metab 100:E1343–E1352

Article  CAS  PubMed  Google Scholar 

Jacobs TP, Kaufmann M, Jones G, Kumar R, Schlingmann K, Shapses S, Bilezekian JP (2014) A lifetime of hypercalcemia and hypercalciuria finally explained. J Clin Endocrinol Metab 99:708–712

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dinour D, Davidovits M, Aviner S, Ganon L, Michael L, Modan-Moses D, Vered I, Bibi H, Frishberg Y, Holtzman EJ (2015) Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. Pediatr Nephrol 30:145–152

Article  PubMed  Google Scholar 

Shah AD, Hsiao EC, O’Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang YM, Mathew AS, Shoback D, Block-Kurbisch I (2015) Maternal hypercalcemia due to failure of 1,25-dihydroxyvitamin D3 catabolism in a patient with CYP24A1 mutations. J Clin Endocrinol Metab 100:2832–6

Article  CAS  PubMed  PubMed Central  Google Scholar 

MacDonald C, Upton T, Soule S, Hunt P, Flowkowski C, Phillips I, Kaufmann M, Jones G (2020) Vitamin D in pregnancy: a word of caution. Familial hypercalcemia due to disordered vitamin D metabolism. Annals Clin Biochem 57:186–191

Article  CAS  Google Scholar 

St-Arnaud R, Arabian A, Travers R, Barletta R-P, Chapin K, Depovere J, Mathieu C, Christakos S, Demay MB, Glorieux FH (2000) Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology 141:2658–2666

Article  CAS  PubMed  Google Scholar 

Knutson JC, DeLuca HF (1974) 25-Hydroxyvitamin D3–24-hydroxylase Subcellular location and properties. Biochemistry 13:1543–1548

Article  CAS  PubMed  Google Scholar 

Ohyama Y, Noshiro M, Okuda K (1991) Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase. FEBS Lett 278:195–198

Article  CAS  PubMed  Google Scholar 

Jones G, Kaufmann M, Prosser D (2012) 25-hydroxyvitamin D3–24-hydroxylase (CYP24A1): Its important role in the degradation of vitamin D. Arch Biochem Biophys 523:9–18

Article  CAS  PubMed  Google Scholar 

Jones G, Prosser DE, Kaufmann M (2014) Cytochrome P450-mediated metabolism of vitamin D. J Lipid Res 55:13–31

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zheng Z, Wu Y, Wu H et al (2023) Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant. J Pediatr Endocrinol 36:999–1011

Article  CAS  Google Scholar 

St-Arnaud R, Arabian A, Kavame D, Kaufmann M, Jones G (2022) Vitamin D and diseases of mineral homeostasis: a humanized preclinical model of Infantile Hypercalcemia type 1. Nutrients 14:3221

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kaufmann M, Gallagher C, Peacock M, Schlingmann K-P, Konrad M, DeLuca HF, Sigueiro R, Lopez B, Mourino A, Maestro M, St-Arnaud R, Finkelstein J, Cooper DP, Jones G (2014) Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D & 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD. J Clin Endocrinol Metab 99:2567–2574

Article  CAS  PubMed  PubMed Central  Google Scholar 

Horst RL (1979) 25-OHD3-26,23-lactone: a metabolite of vitamin D3 that is 5 times more potent than 25-OHD3 in the rat plasma competitive protein binding radioassay. Biochem Biophys Res Commun 89:286–293

Article  CAS  PubMed  Google Scholar 

Kaufmann M, Schlingmann K-P, Berezin L, Molin A, Sheftel J, Vig M, Gallagher C, Nagata A, Masoud SS, Sakamoto R, Nagasawa K, Uesugi M, Kottler M-L, Konrad M, Jones G (2021) Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling. J Bone Mineral Res 36:1340–1350

Article  CAS  Google Scholar 

Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, Foreman JW, Chelminski PR, Kumar R (2012) Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 97:E423-427

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brancatella A, Cappellani D, Kaufmann M et al (2021) Do the heterozygous carriers of a CYP24A1 mutation display a different biochemical phenotype than wild types? J Clin Endocrinol Metab 106:708–717

Article  PubMed  Google Scholar 

Masuda S, Byford V, Arabian A, Sakai Y, Demay MB, St-Arnaud R, Jones G (2005) Altered Pharmacokinetics of 1α,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (CYP24A1) null mouse. Endocrinology 146:825–834

Article  CAS  PubMed  Google Scholar 

Martineau C, Naja RP, Husseini A, Hamade B, Kaufmann M, Akhouayri O, Arabian A, Jones G, St-Arnaud R (2018) Optimal bone fracture repair requires 24R,25-dihydroxyvitamin D3 and its effector molecule, FAM57B2. J Clinical Invest 128:3546–3557

Article  Google Scholar 

Ball N, Duncan S, Zhang Y et al (2023) 3’ Untranslated region structural elements in CYP24A1 are associated with infantile hypercalcemia type 1. J Bone Miner Res 38:414–426

Article  CAS  PubMed  Google Scholar 

Schuster I, Egger H, Herzig G, Reddy GS, Schmid JA, Schüssler M, Vorisek G (2006) Selective inhibitors of vitamin D metabolism–new concepts and perspectives. Anticancer Res 26:2653–2668

CAS  PubMed  Google Scholar 

Jones G (2012) Vitamin D analogs. Rheum Disease Clinics N America 38:207–232

Article  Google Scholar 

Roizen JD, Levine MA (2024) The role of genetic variation in CYP2R1, the principal vitamin D 25-hydroxylase and CYP3A4 in vitamin D homeostasis. In: Hewison M et al (eds) vitamin D, 5th edn. Elsevier, San Diego, CA, pp 341–357

Google Scholar 

Wang Z, Schuetz EG, Xu Y, Thummel KE (2013) Interplay between vitamin D and the drug metabolizing enzyme CYP3A4. J Steroid Biochem Mol Biol 136:54–58

Article  CAS  PubMed  Google Scholar 

Wang Z, Senn T, Kalhorn T, Zheng XE, Zheng S, Davis CL, Hebert MF, Lin YS, Thummel KE (2011) Simultaneous measurement of plasma vitamin D(3) metabolites, including 4β,25-dihydroxyvitamin D(3), using liquid chromatography-tandem mass spectrometry. Anal Biochem 418:126–133

Article  CAS  PubMed  PubMed Central