The landscape of rare genetic disorders has been revolutionized by advances in understanding and treating Mucopolysaccharidosis (MPS) conditions. These inherited lysosomal storage diseases affect thousands of individuals worldwide, presenting complex clinical challenges that require specialized expertise and multidisciplinary care approaches. The accumulation of glycosaminoglycans in...

Mucopolysaccharidosis (MPS) constitutes a collection of rare inherited metabolic conditions stemming from specific lysosomal enzyme deficiencies that compromise glycosaminoglycan (GAG) catabolism. Impaired enzymatic function leads to progressive GAG accumulation, resulting in multisystem pathology affecting organs, skeletal structures, and connective tissues. Deepening comprehension of...