Mucopolysaccharidosis Management: From Diagnosis to Advanced Therapeutic Interventions
The complexity of Mucopolysaccharidosis (MPS) disorders presents unique challenges in clinical practice, requiring specialized knowledge and multidisciplinary approaches to optimize patient care. These lysosomal storage diseases affect thousands of individuals worldwide, with each subtype presenting distinct pathophysiological mechanisms and clinical presentations that demand tailored therapeutic strategies. Pathophysiology and Disease Burden MPS disorders result from genetic mutations affecting specific lysosomal enzymes responsible for glycosaminoglycan degradation. The subsequent accumulation of these complex carbohydrates in cellular compartments leads to progressive organ dysfunction and multi-system complications. The clinical burden varies significantly among the seven recognized MPS types, with some patients experiencing rapid progression and others maintaining relatively stable function for extended periods. Early recognition of MPS symptoms is crucial for optim...