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Gene Mutation Tied to Increased Vitamin D Sensitivity

Last Updated: June 16, 2011.

Mutations in CYP24A1 are associated with increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia, and may be a potential genetic risk factor for the development of symptomatic hypercalcemia in otherwise healthy infants, according to a study published online June 15 in the New England Journal of Medicine.

THURSDAY, June 16 (HealthDay News) -- Mutations in CYP24A1 are associated with increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia, and may be a potential genetic risk factor for the development of symptomatic hypercalcemia in otherwise healthy infants, according to a study published online June 15 in the New England Journal of Medicine.

Karl P. Schlingmann, M.D., from the University Children's Hospital in Muenster, Germany, and colleagues investigated the molecular basis of idiopathic infantile hypercalcemia. Familial cases of infantile idiopathic hypercalcemia with suspected autosomal recessive inheritance were assessed using a candidate gene approach for the evaluation of mutations in the vitamin D-metabolizing enzyme CYP24A1.

The investigators found that six affected children had recessive mutations in the gene CYP24A1 that encodes 25-hydroxyvitamin D 24-hydroxylase. A second cohort of infants who developed hypercalcemia after bolus prophylaxis with vitamin D also had CYP24A1 mutations. All CYP24A1 mutations were characterized by complete loss of function.

"The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered by vitamin D prophylaxis in otherwise apparently healthy infants," the authors write.

One study author disclosed a financial relationship with Cytochroma Inc.

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