Table 1. Lysosomal storage diseases diagnosed from 1982 to 2017 by the Reference Laboratory of Inborn Errors of Metabolism, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil.
| Lysosomal storage disease | Number of confirmed diagnoses |
|---|---|
| Mucopolysaccharidoses | |
| Mucopolysaccharidosis type I | 262 |
| Mucopolysaccharidosis type II | 413 |
| Mucopolysaccharidosis type IIIA | 67 |
| Mucopolysaccharidosis type IIIB | 104 |
| Mucopolysaccharidosis type IIIC | 68 |
| Mucopolysaccharidosis type IVA | 193 |
| Mucopolysaccharidosis type IVB | 13 |
| Mucopolysaccharidosis type VI | 281 |
| Mucopolysaccharidosis type VII | 22 |
| Multiple sulfatase deficiency | 9 |
| Glycoproteinoses | |
| Aspartylglucosaminuria | 1 |
| Fucosidosis | 4 |
| Galactosialidosis | 19 |
| α-Mannosidosis | 9 |
| Mucolipidosis II/III | 41 |
| Sialidosis | 14 |
| Sphingolipidoses | |
| Fabry disease | 109 |
| Gaucher disease | 756 |
| GM1 gangliosidosis | 181 |
| GM2 Tay-Sachs disease (44% B1) | 144 |
| GM2 Sandhoff disease | 30 |
| Krabbe disease | 109 |
| Metachromatic leukodystrophy | 164 |
| Niemann-Pick type A/B disease | 225 |
| Other LDs | |
| Lysosomal acid lipase deficiency | 11 |
| Neuronal ceroid lipofuscinosis 1 (CLN1) | 6 |
| Neuronal ceroid lipofuscinosis 2 (CLN2) | 43 |
| Niemann-Pick type C | 161 |
| Pompe disease | 52 |
| Salla disease | 1 |
| TOTAL | 3512 |
* Classified as proposed by Kingma et al., 2015.