From: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Molecular defect | Enzyme deficiency | Disease example | OMIM number |
---|---|---|---|
Primary lysosomal hydrolase defect | α-Galactosidase A Iduronate-sulfatase | Fabry disease MPS II | 301500 309900 |
Post-translational processing defect of lysosomal enzymes | Multiple sulphatase deficiency (17 sulphatases) | Multiple sulphatase deficiency | 272200 |
Trafficking defect for lysosomal enzymes | N-acetylglucosamine-1-phosphotransferase | Mucolipidosis type II | 252500 |
Defect in lysosomal enzyme protection | β-Galactosidase and Neuraminidase deficiency | Galactosialidosis | 256540 |
Defect insoluble non-enzymatic lysosomal proteins | Hexosaminidase activator deficiency | GM2 type AB (Tay-Sachs disease variant AB) | 272750 |
Transmembrane (non-enzyme) protein defect | Lysosomal-associated membrane protein 2 | Danon disease | 300257 |
Unclassified | Intracellular accumulation of autofluorescent of lipopigments storage material | Neuronal ceroid lipofuscinoses (CLN4) | 204300 |