ea0090p28 | Calcium and Bone | ECE2023
Leszczynska Dorota
, Szatko Alicja
, Latocha Julia
, Kochman Magdalena
, Duchnowska Maria
, Wojcicka Anna
, Misiorowski Waldemar
, Zgliczyński Wojciech
, Glinicki Piotr
Introduction: 24-hydroxylase, encoded by a CYP24A1 gene, is a crucial enzyme entailed in catabolism of vitamin D. Loss-of-function mutations of CYP24A1 result in hypercalcemia, not adequately concomitant high levels of 1,25(OH)2D and low PTH levels. The variety of clinical manifestations depends on age mutations can lead to fatal infantile hypercalcemia among neonates (typically precipitated by supplementation of vitamin D), whereas adults symptoms are usually mil...