ea0044p72 | Clinical biochemistry | SFEBES2016
Tang Jonathan
, Nicholls Holly
, Dutton John
, Piec Isabelle
, Washbourne Christopher
, Saleh Lanja
, Novak A
, Close Graeme
, Macdonald Helen
, Fraser William
Background: 25-hydroxyvitamin D (25(OH)D) is metabolised into two forms of metabolites: 1,25-dihydroxyvitamin D (1,25(OH)2D) by the actions of 1α hydroxylase, and 24,25-dihydroxyvitamin D (24,25(OH)2D) by 24-hydroxylase. Studies suggest the production of 1,25(OH)2D is 24,25(OH)2D dependent. Genetic mutations of CYP24A1 gene resulting in reduced or total loss of 24-hydroxylase function are associated with hypercalcaemic condition...