[en] The 24,25-dihydroxyvitamin D [24,25(OH)2D] is a catabolite of
25-hydroxyvitamin D [25(OH)D]. This transformation is performed by
1,25-hydroxyvitamin D 24-hydroxylase (or 24-hydroxylase, encoded
by the CYP24A1 gene). Mutations in CYP24A1 can lead to severe
diseases such as idiopathic infantile hypercalcemia (IIH). Explorations of
hypercalcemia with suppressed parathyroid hormone levels and normal
or high phosphatemia should now include 24,25(OH)2D determination to
exclude CYP24A1 mutations. 24,25(OH)2D and the vitamin D metabolite
ratio (VMR) [i.e. 25(OH)D/24,25(OH)2D] are now considered as new
biomarkers for the assessment of functional vitamin D deficiency.
Disciplines :
Laboratory medicine & medical technology
Author, co-author :
VRANKEN, Laura ; Centre Hospitalier Universitaire de Liège - CHU > Secteur commun NDB
FONTAINE, Corentin ; Centre Hospitalier Universitaire de Liège - CHU > Frais communs Biologie clinique - Pool assistants
SOUBERBIELLE, Jean-Claude; Hôpital Necker-Enfants Malades, Paris, > Service des Explorations Fonctionnelles
CAVALIER, Etienne ; Centre Hospitalier Universitaire de Liège - CHU > Service de chimie clinique
Language :
English
Title :
24,25-dihydroxyvitamin D: a new biomarker in non-parathyroid hypercalcemia diagnosis
