Lysosomal storage disease

Lysosomal storage diseases are a group of more than seventy rare inherited metabolic disorders caused by defects in the lysosome, the sac-like structure inside cells that uses specialized enzymes to break down large molecules for recycling. When a mutation disables one of these enzymes, the molecules it should have processed instead build up inside the cell, eventually damaging or killing it and producing disease across multiple organs. Tay-Sachs disease was the first of these disorders described, in 1881, followed by Gaucher disease the next year, and clinicians have since identified dozens more, grouped by which stored material accumulates, such as the lipid storage disorders and the mucopolysaccharidoses. Because each disorder stems from a different missing or malfunctioning enzyme, severity, age of onset and the organs affected vary enormously across the group.