| Disorder | Enzyme or Test |
| Screen for all mucolipidoses | Oligosaccharides |
| a-mannosidosis* | a-mannosidase |
| b-mannosidosis* | b-mannosidase |
| Fucosidosis* | a-fucosidase |
| Sialidosis | a-N-acetylneuraminidase |
| Galactosialidosis | a-N-acetylneuraminidase and b-galactosidase |
| Aspartylglycosaminuria* | Aspartylglucosaminidase |
| Schindler disease* | a-N-acetylgalactosaminidase |
(* = prenatal diagnosis available)