Abstract
Genetic and clinical characteristics of the patients with Vitamin D Dependent Rickets Type 1A
Highlights
IntroductionThe first is ergocalciferol (vitamin D2), derived from ergosterol after ultraviolet (UV) light exposure and the second is cholecalciferol (vitamin D3), derived from animal tissues and 7-dehydrocholesterol, formed in human skin by the action of UV rays in sunlight [1]
Vitamin D comprises two biologically inactive, fatsoluble pro-hormones
The first step occurs in the liver, where vitamin D is hydroxylated to 25-hydroxyvitamin D (25-OHD) by hepatic 25-hydroxylase
Summary
The first is ergocalciferol (vitamin D2), derived from ergosterol after ultraviolet (UV) light exposure and the second is cholecalciferol (vitamin D3), derived from animal tissues and 7-dehydrocholesterol, formed in human skin by the action of UV rays in sunlight [1]. Both forms need a two-step hydroxylation at the 25th and 1st carbons for activation. The first step occurs in the liver, where vitamin D is hydroxylated to 25-hydroxyvitamin D (25-OHD) by hepatic 25-hydroxylase. The renal synthesis of 1,25-OH2D from its precursor 25-OHD is a rate-limiting step and is tightly regulated by exisiting serum concentrations of 1,25-OH2D, parathyroid hormone (PTH), fibroblast growth factor-23 (FGF-23), calcium and phosphate concentrations, with renal 1α-hydroxylase being stimulated by PTH, hypophosphatemia, or hypocalcaemia and inhibited by FGF-23 [4]
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