Enzyme storage diseases, also known as lysosomal storage disorders, are a group of inherited metabolic disorders characterized by the accumulation of substrates due to defective enzymes. Examples include:
Gaucher's Disease: Caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside. Tay-Sachs Disease: Resulting from a deficiency in hexosaminidase A, causing the accumulation of GM2 ganglioside. Pompe Disease: Due to a deficiency in acid alpha-glucosidase, leading to the buildup of glycogen in lysosomes.
