vitamin D–dependent rickets type I

vitamin D–dependent rickets type I
an autosomal recessive disorder characterized by rickets with myopathy, hypocalcemia, moderate hypophosphatemia, secondary hyperparathyroidism, and subnormal serum concentrations of 1,25-dihydroxyvitamin D. The disorder can be overcome by high doses of vitamin D or physiologic doses of calcitriol and is caused by any of several enzyme defects in the pathway by which vitamin D is converted to its active form 1,25-dihydroxyvitamin D.

Medical dictionary. 2011.

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