vitamin D-dependent rickets type I
Quick Summary
Vitamin D-dependent rickets type I (VDDRI) is an inherited disorder characterized by a defect in the enzyme responsible for converting calcidiol to calcitriol, the active form of vitamin D. This deficiency leads to impaired calcium absorption and subsequent poor bone mineralization, a condition known as rickets in children.12
The pathology involves the body's inability to properly utilize vitamin D, resulting in bones that are soft and prone to abnormal growth and deformities. This inherited condition is autosomal recessive, meaning two copies of the mutated gene are required for the disease to manifest, typically in infancy or early childhood.1
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