title: Circulating vitamin D metabolite levels in hypophosphatasia.
abstract: 25OHD, 1,25,-(OH))2D, and 24,25-(OH)2D were assayed in the serum of 16 patients with the infantile, childhood, or adult form of hypophosphatasia. Except for diminished 1,25-(OH)2D and elevated 24,25-(OH)2D levels in 2 infants (which could be attributed to nonparathyroid hormone-mediated hypercalcemia), the mean circulating level of each vitamin D metabolite was normal in the 3 patient groups. Abnormalities in vitamin D metabolism do not appear to contribute to the pathogenesis of this rare hereditary form of rickets or osteomalacia, which occurs despite normal circulating calcium, inorganic phosphate, and vitamin D metabolite levels.
mesh_terms: D015652:25-Hydroxyvitamin D 2; D000328:Adult; D002117:Calcitriol / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D004872:Ergocalciferols / Q000031:analogs & derivatives* / Q000097:blood; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000097:blood*; D007223:Infant; D008297:Male; D008875:Middle Aged
chemical_list: D004872:Ergocalciferols; D015652:25-Hydroxyvitamin D 2; C028140:24,25-dihydroxyvitamin D2; D002117:Calcitriol