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K641

Vitamin D-deficieny rickets (VDDR), type I is a metabolic bone disease as a result of an enzymatic pathway defect.

12 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

General information

Vitamin D-deficieny rickets (VDDR), type I is a metabolic bone disease as a result of an enzymatic pathway defect.  Rickets (Osteomalacia) is most commonly caused by vitamin D or calcium deficiencies owing to both environmental and or genetic abnormalities. VDDR-1 results in clinical signs indistinguishable from those seen in individuals suffering from non-genetic lack of vitamin D.

Clinical features

A failure of calcification of bones leads to softening and bowing of limbs. This results in an increased prevalence of fractures and deformities. Furthermore it results in delayed dentition.

Additional information

References

Pubmed ID: 22553308

Omia ID: 837

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