Saving Children with Rare Diseases – Lysosomal storage diseases

Lysosomal storage disorders (LSDs) are inherited disorders caused by a deficiency of specific enzymes that are normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If a specific lysosomal enzyme is not present in sufficient quantities, the normal breakdown of GAGs is incomplete or blocked. The cell is then unable to excrete the carbohydrate residues and they accumulate in the lysosomes of the cell. This accumulation disrupts the cell’s normal functioning and gives rise to the clinical manifestations of LSDs.