Mucopolysaccharidosis Unveiled: From Molecular Pathology to Revolutionary Treatment Paradigms
In the realm of inherited metabolic disorders, few conditions demonstrate the complexity and devastating impact of mucopolysaccharidosis (MPS) as clearly as this group of lysosomal storage diseases. These genetic conditions fundamentally alter cellular metabolism, creating a domino effect of physiological disruptions that manifest across multiple organ systems. The journey from understanding the molecular basis of these disorders to developing effective treatments represents one of medicine's most remarkable success stories in rare disease research. Molecular Foundation and Pathophysiology At the cellular level, mucopolysaccharidosis results from defects in lysosomal enzymes responsible for breaking down glycosaminoglycans, essential components of connective tissues throughout the body. These complex sugar molecules normally undergo systematic degradation within lysosomes, cellular organelles often called the cell's recycling centers. When specific enzymes are absent...