Navigating Mucopolysaccharidosis: Clinical Challenges and Breakthrough Therapies
Rare genetic disorders present unique challenges in modern medicine, with Mucopolysaccharidosis (MPS) exemplifying the complexity of inherited metabolic conditions. These devastating disorders affect cellular function through the progressive accumulation of glycosaminoglycans, creating a cascade of complications that impact virtually every organ system and profoundly alter patients' developmental trajectories and life expectancy. Decoding the MPS Disease Spectrum The MPS family encompasses seven distinct disorders, each characterized by specific enzymatic deficiencies that disrupt normal glycosaminoglycan metabolism. The clinical presentation varies dramatically across subtypes, with some patients experiencing severe neonatal manifestations while others may not develop symptoms until their teenage years or early adulthood. Progressive GAG accumulation creates distinctive clinical features including coarse facial characteristics, joint stiffness, hepatosplenomegaly, and s...