Lysosomal storage disease
A metabolic disease due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell
A lysosomal disease is a metabolic disease involving the lysosomes. Lysosome is an organelle containing various digestive enzymes, which are used for the digestion and the removal of excess or worn-out organelles, food particles, waste materials, viral particles, and bacteria. It serves as the waste disposal system of the cell. Thus, defects in its physiological function could result to a disease.
Lysosomal storage diseases are hereditary. The dysfunctional lysosomal enzyme is caused by a particular defective gene as a result of mutation.
Lysosomal storage diseases that have been identified so far are as follows: sphingolipidoses, ceramidase (e.g. Farber disease, Krabbe disease, etc.), galactosialidosis, gangliosides, alpha-galactosidase (e.g. Fabry disease, Schindler disease, etc.), beta-galactosidase, GM2 gangliosidosis (e.g. Sandhoff disease, Tay-Sachs disease, etc.), glucocerebroside (e.g. Gaucher disease), sphingomyelinase (e.g. lysosomal acid lipase deficiency), sulfatidosis, mucopolysaccharidosis, mucolipidosis, lipidosis (e.g. neuronal ceroid lipofuscinosis, Wolman disease, etc.), cholesterol ester storage disease, lysosomal transport disease, glycogen storage disease, etc. The symptoms may vary depending on the dysfunctional lysosomal enzyme involved.
- lysosomal disease
- storage disease