Pseudo-Vitamin D-Deficiency Rickets

Pseudo-vitamin D-deficiency rickets is characterized by failure to thrive, muscle weakness, hypocalcemia and the bony changes of rickets including short stature, osteomalacia, leg bowing, fractures and dental defects. Patients may present with seizures and tetany. The skeletal changes are severe and may resemble those found in skeletal dysplasias. Affected patients are responsive to treatment with Vitamin D.

Tests Available

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differentiation between the several types of hereditary Rickets.
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs


  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 783.4 Lack of expected normal physiological development in childhood
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  1. Kong, XF et al., Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D3-1?-hydroxylase gene Proc Natl Acad Sci 96:6988-6993 (1999)
  2. Smith, SJ et al., Novel Mutations in the 1?-Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D-Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood Derived Macrophages J Bone & Mineral Res 14(5):730-739 (1999)
  3. Wang X et al., Novel Gene Mutations in Patients with 1a-Hydroxylase Deficiency That Confer Partial Enzyme Activity in Vitro J Clin Endocrin & Metab 87(6):2424-2430 (2002)
  4. Kitanaka, S et al., Inactivating Mutations In The 25-Hydroxyviatmin D3 1?- Hydroxylase Gene in Patients With Pseudovitamin-D-Deficiency Rickets NEJM 338(10):653-661 (1998)
  5. Wang, JT et al., Genetics of Vitamin D 1?-Hydroxylase Deficiency in 17 Families Am J Hum Genet 63:1694-1702 (1998)