Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
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DOI: 10.1002/jbmr.3181
Abstract: Vitamin D requires a two‐step activation by hydroxylation: The first step is catalyzed by hepatic 25‐hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α‐hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form… read more here.
Keywords: hydroxylase; vitamin dependent; condition; deficiency ... See more keywords
CYP3A4 mutation causes vitamin D–dependent rickets type 3
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DOI: 10.1172/jci98680
Abstract: Genetic forms of vitamin D–dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of… read more here.
Keywords: vitamin dependent; vitamin metabolites; cyp3a4; dependent rickets ... See more keywords
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study
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DOI: 10.3389/fped.2022.1007219
Abstract: Purpose Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern… read more here.
Keywords: long term; dependent rickets; vitamin dependent; diagnosis ... See more keywords
Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.
Sign Up to like & getrecommendations! Published in 2022 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.47391/jpma.5266
Abstract: Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of… read more here.
Keywords: dependent rickets; vitamin dependent; diagnosis; vitamin ... See more keywords