Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p111 | (1) | ICCBH2017

Vitamin D-dependent rickets type 1 due to a novel mutation in CYP27B1

Levy-Shraga Yael , Pode-Shakked Ben , Pode-Shakked Naomi , Barel Ortal , Jacobson Jeffrey , Paret Gideon , Raas-Rothschild Annick

Background: Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1. This gene encodes the 1α-hydroxylase enzyme which converts 25-hydroxy vitamin D to the active form 1,25-dihydroxyvitamin D.Objective: To describe a case of VDDR-1due to a novel CYP27B1 mutation.Presenting problem: A 27-month-old female was admitted to the Pediatric Intensive Care Unit...