Topic: MPS-IIIA

Mucopolysaccharidosis type IIIA (MPS-IIIA) is a rare genetic metabolism disorder, belonging to the class of Lysosomal Storage Disorders (LSD). MPS-IIIA is caused by a mutation in the gene SGSH, leading to lysosomal enzyme sulfamidase deficiency and impaired degradation of heparan sulfate. Although the disease manifests during early childhood as an autistic spectrum disorder (ASD), the causes of ASD in MPS-IIIA are only poorly explored. Using a genetic mouse model of MPS-IIIA, we have recently discovered that these autistic-like behavioural symptoms (ALBs), which are known to be subtly regula

Mucopolysaccharidosis IIIA (MPS-IIIA) is a severe inborn error of metabolism caused by mutations in the sulfamidase gene (SGSH), which encodes a lysosomal enzyme involved in the metabolism of heparan sulfate (HS). Defective sulfamidase activity leads to the accumulation of HS within lysosomes, resulting in lysosomal dysfunction and ultimately leading to neurodegeneration and dementia in affected children. However, preceding dementia, individuals often exhibit severe and debilitating autistic-like behaviors, including self-injury, stereotypic behaviors, and social impairment. These autistic sym

Lysosomal storage disorders (LSD) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Among these, Mucopolysaccharidoses (MPS) are characterized by the loss of function of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAGs). This defect leads to the production, at the cellular level, of secondary storages comprised of undegraded proteins. In some of these syndromes, this translates into a neurodegenerative phenotype with pediatric dementia. Promoting the degradation of secondary storages is one of the most promising therapeutic