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)
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
(5) muscle hypotonia
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Specialty: Endocrinology, Clinical Laboratory