Table 2.
Secondary lipid storage in lysosomal storage diseases. The individual classes of lipids are indicated in the lines with a gray background.
| Secondary Storage Lipid | Disease | Compartment | Cellular Disturbance | Reference |
|---|---|---|---|---|
| Phospholipids | ||||
| Sphingomyelin | Sphingolipidoses: Niemann–Pick type C | Lysosomes | Altered membrane lipids trafficking | [170,171] |
| Bis(monoacylglycero)phosphate (BMP) |
Sphingolipidoses: Niemann–Pick type C, Fabry disease, Gaucher disease, GM1 gangliosidosis, GM2 gangliosidosis Mucopolysaccharidoses: Hurler syndrome, Hunter syndrome Neuronal ceroid lipofuscinoses: NCL 10 |
Endosomes, lysosomes | Altered membrane lipids trafficking, lamellar bodies formation | [171,172] |
| Glycosphingolipids | ||||
| Gangliosides—GM1, GM2, GM3, GD1a, GD2, GD3 |
Sphingolipidoses: Niemann–Pick type A, B and C, Gaucher disease, prosaposin deficiency Mucopolysaccharidoses: Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Maroteaux–Lamy syndrome, Sly syndrome Glycoproteinoses: Galactosialidosis, α-mannosidosis, sialidosis Mucolipidoses: mucolipidosis II/III, mucolipidosis IV Neuronal ceroid lipofuscinoses: NCL 3, NCL 6, NCL 10 |
Late endosomes, lysosomes, cytoplasmic vesicles | Alteration of lysosomal pH, autophagy dysregulation, rupture of H+/Ca2+ homeostasis, altered vesicle trafficking, dysregulation of signaling pathways, accumulation of polyubiquitinated proteins, reduced capacity of immune cells to produce cytokines and antibodies, neurodegeneration (gliosis, demyelination of white matter, astrocyte and microglial activation) | [173,174,175,176,177,178,179,180,181] |
| Cholesterol | ||||
| Cholesterol |
Sphingolipidoses: Niemann–Pick type A and B Mucopolysaccharidoses: Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Maroteaux–Lamy syndrome Glycoproteinoses: α-mannosidosis |
Late endosomes, lysosomes, cytoplasmic vesicles | Impaired vesicle trafficking, abnormal sequestration of materials, foam cells in cerebral blood vessels and liver | [171,174,176,177,178] |
Subgroups (regular font) or classes (italic font) of disorders related to abnormal lipid storage or lipid metabolism are indicated in the lines with a gray background.