Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions characterized by an abnormal build-up of various toxic materials in the body's cells. This accumulation is due to enzyme deficiencies that prevent the breakdown of substances within lysosomes, cellular structures responsible for degrading cellular waste. These disorders can affect multiple organ systems and exhibit a wide range of symptoms and severities.
Although they are individually rare, collectively, LSDs encompass more than 70 distinct disorders, each caused by its own specific enzyme deficiency. They are typically diagnosed in childhood but can manifest at any age. Examples of lysosomal storage disorders include: