Abstract Search

ba0004p163 | (1) | ICCBH2015

Whole blood gene expression analysis in idiopathic infantile hypercalcemia due to compound heterozygous mutation in the CYP24A1 gene in an Austrian 4-month-old boy and his family

Hofer Daniela , Zachhuber Verena , Lindheim Lisa , Munzker Julia , Trummer Olivia , Schweighofer Natascha , Ulbing Matthias , Obermayer-Pietsch Barbara

Defects in 24-hydroxylation caused by vitamin D-hydroxylase (CYP24A1) loss-of-function mutations lead to decreased degradation of 1,25(OH)2D and the syndrome of idiopathic infantile hypercalcemia. Affected individuals show increased sensitivity to vitamin D and may develop severe hypercalcemia and hypercalciuria, even with small doses of vitamin D.Presenting: The objective of the study was to investigate the gene expression profile in...

0 shares

Bone Abstracts

Whole blood gene expression analysis in idiopathic infantile hypercalcemia due to compound heterozygous mutation in the CYP24A1 gene in an Austrian 4-month-old boy and his family

BiosciAbstracts