What type of abnormal synthesis is caused by genetic defects in Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI), often referred to as "brittle bone disease," is primarily caused by genetic defects that affect the synthesis of collagen, which is a fundamental protein that provides structure and strength to bones, skin, tendons, and other connective tissues. These genetic mutations typically involve abnormal production or improper structure of collagen types I and V, which are crucial for bone strength and integrity.

In individuals with OI, decreased amounts or abnormalities in the collagen result in fragile bones that are prone to fractures from minimal or no trauma. Understanding the specific role of collagen in bone development and repair is essential in recognizing how its deficiency or abnormality manifests clinically in OI.

The other options, such as proteins, carbohydrates, and lipids, do play various roles in the body, but they are not directly implicated in the pathophysiology of Osteogenesis Imperfecta. The specific focus on collagen synthesis defects is the key concept that highlights the underlying genetic issues associated with this condition.