Search
25-hydroxyvitamin D3 deficiency (pseudovitamin D3 deficiency rickets)
Pathology:
- vitamin D 25-hydroxylase deficiency
Genetics:
- associated with defects in CYP2R1
Clinical manifestations:
- rickets at a young age despite a history of adequate vitamin D intake
Laboratory:
- low serum Ca+2
- low serum phosphate
- elevated serum alkaline phosphatase activity
- low levels of serum 25-hydroxyvitamin D3
General
enzyme deficiency
Database Correlations
OMIM 600081
References
OMIM :accession 600081