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Vitamin D-deficieny rickets (VDDR), type I is a metabolic bone disease as a result of an enzymatic pathway defect.
12 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
|Mode of Inheritance|
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.
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.
Pubmed ID: 22553308
Omia ID: 837