impaired control of this enzyme could result in the inappropriately low circulating concentrations of 1,25-dihydroxyvitamin d3 that have been observed in humans with hypophosphatemic rickets and in the relatively low activity of 1 alpha-hydroxylase in renal cortical homogenates of hyp mice compared to that in normal mice on a low phosphate diet .
C1704375
hypophosphatemic rickets
C0085682
hyp