Table 2 List of storage disorders screened with the UHPLC-MS/MS method
Storage disorders | Enzyme/protein deficiency | Gene | MIM number | Characteristic oligosaccharides |
|---|---|---|---|---|
Oligosaccharidoses | ||||
Sialidosis | α-d-neuraminidase | NEU1 | 608272 | Sialyl-OS |
α-Mannosidosis | α-d-mannosidase | MAN2B1 | 609458 | Mannosyl-OS |
β-Mannosidosis | β-d-mannosidase | MANBA | 609489 | Hex-HexNAc and derivates |
Fucosidosis | α-l-fucosidase | FUCA1 | 612280 | Fucosyl-OS |
Aspatylglucosaminuria | N-aspartyl-β-glucosaminidase | AGA | 613228 | GlcN-Asn + glycoasparaginyl-OS |
Sphingolipidoses | ||||
GM1-gangliosidosis | β-d-galactosidase | GLB1 | 611458 | Galactosyl-OS |
GM2-gangliosidosis O variant (Sandhoff) | Hexosaminidase A and B | HEXB | 606873 | N-acetylgalacto saminyl-OS |
GM2-gangliosidosis B variant (Tay-Sachs) | Hexosaminidase A | GM2A | 613109 | No abnormalities |
Glycogen storage disorders | ||||
Pompe disease (Glycogenosis type II) | Acid α-glucosidase | GAA | 606800 | Glc4 |
Disoders of autophagy | ||||
Vici syndrome | EPG5 | EPG5 | 615068 | Glc4 |
Yunis-Varon syndrome | FIG4 | FIG4 | 609390 | Glc4 |
VAC 14 | VAC14 | 604632 | ||
Danon disease (Glycogenosis type IIb) | LAMP2 | LAMP2 | 309060 | Glc4 |
Mucolipidoses | ||||
Mucolipidosis type II & III | N-acetylglucosamine-1-P-transferase | GNPTAB | 607840 | Non-specific abnormalities |
Mucopolisaccharidoses | ||||
Mucopolysaccharidosis IVB | β-d-galactosidase | GLB1 | 611458 | Non-specific abnormalities |