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

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/600081