hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021
Aftab Sommayya
, Shaheen Tahir
, Nadeem Anjum Muhammad
, Imran Ahmed
, Saeed Anjum
, Ali Qureshi Abid
, Cheema Huma Arshad
,
Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...