ESPE Abstracts

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...