Mucopolysaccharidosis type II in Latin America


Mucopolysaccharidosis (MPS) are genetic disorders caused by specific lysosomal enzyme deficiencies, leading to the accumulation of glycosaminoglycans (GAGs) – long chains of sugars (carbohydrates) in each of our cells – in the extracellular matrix and cells, and subsequently compromising tissues and leading to organ malfunction. Currently, MPS are categorized in seven clinical types (and numerous subtypes) in accordance with the specific lysosomal enzyme affected, leading to variable phenotype, severity, and progression patterns among MPS types.