Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)

Stable Identifier
R-HSA-5579010
Type
Pathway
Species
Homo sapiens
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Catabolic inactivation of the active, hormonal form of vitamin D3 (calcitriol, CALTOL, 1,25-dihydroxyvitamin D3) is initially carried out by 24-hydroxylation, mediated by 1,25-dihydroxyvitamin D3 24-hydroxylase (CYP24A1). The product formed is eventually transformed to calcitroic acid, the major water-soluble metabolite that can be excreted in bile. Defects in CYP24A1 can cause hypercalcemia infantile (HCAI; MIM:143880), a disorder characterised by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis (Schlingmann et al. 2011).

Literature References
PubMed ID Title Journal Year
21675912 Mutations in CYP24A1 and idiopathic infantile hypercalcemia

Schlingmann, KP, Kaufmann, M, Weber, S, Irwin, A, Goos, C, John, U, Misselwitz, J, Klaus, G, Kuwertz-Bröking, E, Fehrenbach, H, Wingen, AM, Güran, T, Hoenderop, JG, Bindels, RJ, Prosser, DE, Jones, G, Konrad, M

N. Engl. J. Med. 2011
Participants
Participant Of
Disease
Name Identifier Synonyms
hypercalcemia 12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
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