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Definition

A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D.

Acronym

VDDR1B

Synonyms

25-hydroxyvitamimn D3 deficiency selective
25-hydroxyvitamin D(3) deficiency
Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency
Selective 25-hydroxyvitamin D(3) deficiency