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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.