Mucopolysaccharidoses

Mucopolysaccharidoses (MPS) are a group of rare genetic disorders caused by missing or malfunctioning enzymes needed to break down certain complex sugars called mucopolysaccharides. When these substances aren’t properly broken down, they accumulate in cells, tissues, and organs, leading to progressive damage. Symptoms vary but may include developmental delays, enlarged liver and spleen, heart issues, joint problems, and distinctive facial features. Since MPS are inherited conditions, early diagnosis and management can help improve quality of life, even though currently there is no complete cure.