Vitamin D-dependent rickets

Definition:

Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.

References:

[1]. Jeffrey B Cheng, et al. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5. [Content Brief]

[2]. Jeffrey D Roizen, et al. CYP3A4 mutation causes vitamin D-dependent rickets type 3. J Clin Invest. 2018 May 1;128(5):1913-1918. [Content Brief]

[3]. K Arita, et al. A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. Br J Dermatol. 2008 Jan;158(1):168-71. [Content Brief]

[4]. Keiko Yamamoto, et al. Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. J Biol Chem. 2005 Aug 26;280(34):30511-6. [Content Brief]

[5]. Peter J Malloy, et al. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am. 2010 Jun;39(2):333-46, table of contents. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.