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lüll Genetic disorders and defects in vitamin d action Malloy PJ; Feldman DEndocrinol Metab Clin North Am 2010[Jun]; 39 (2): 333-46, table of contentsTwo rare genetic diseases can cause rickets in children. The critical enzyme to synthesize calcitriol from 25-hydroxyvitamin D, the circulating hormone precursor, is 25-hydroxyvitamin D-1alpha-hydroxylase (1alpha-hydroxylase). When this enzyme is defective and calcitriol can no longer be synthesized, the disease 1alpha-hydroxylase deficiency develops. The disease is also known as vitamin D-dependent rickets type 1 or pseudovitamin D deficiency rickets. When the VDR is defective, the disease hereditary vitamin D-resistant rickets, also known as vitamin D-dependent rickets type 2, develops. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. In this article, these 2 genetic childhood diseases, which present similarly with hypocalcemia and rickets in infancy, are discussed and compared.|25-Hydroxyvitamin D3 1-alpha-Hydroxylase/*deficiency/*genetics[MESH]|Alopecia/genetics[MESH]|Animals[MESH]|Calcitriol/*biosynthesis/*genetics/therapeutic use[MESH]|Child[MESH]|Child, Preschool[MESH]|Female[MESH]|Humans[MESH]|Hyperparathyroidism, Secondary/genetics[MESH]|Hypocalcemia/genetics[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Male[MESH]|Mice[MESH]|Receptors, Calcitriol/*genetics[MESH]|Rickets/*genetics/metabolism/pathology[MESH] |