What is a consequence of prolyl 4-hydroxylase deficiency?

Prolyl 4-hydroxylase is an important enzyme involved in the post-translational modification of proline residues in collagen. This hydroxylation is crucial for stabilizing the collagen triple helix, which is essential for the proper structure and function of collagen fibers in the extracellular matrix. In the absence or deficiency of this enzyme, collagen cannot be properly hydroxylated, leading to reduced stability and improper formation of collagen fibrils.

As a result, individuals with prolyl 4-hydroxylase deficiency experience a decrease in collagen synthesis. This reduction can manifest in various connective tissue disorders, including those that affect skin, bones, and cartilage, leading to symptoms such as easy bruising, joint hypermobility, and fragile skin. Thus, reduced collagen synthesis is a direct and significant consequence of prolyl 4-hydroxylase deficiency.