A patient who inherits a mutation in CYP24A1 may develop a mild idiopathic hypercalcemia during infancy, typically triggered when vitamin D is given to prevent rickets.
Protein affected: CYP24A1 (25-hydroxyvitamin D 24 hydroxylase)
Chromosome: 20q13
A mutation in CYP24A1 results increased levels of 1,25-dihydroxyvitamin D3 secondary to decreased degradation.
Clinical features triggered by vitamin D administration:
(1) failure to thrive
(2) vomiting
(3) anorexia
(4) dehydration
(5) muscle hypotonia
(6) nephrocalcinosis
(7) hypercalcemia
To read more or access our algorithms and calculators, please log in or register.
