Table 4. Lysosomal storage diseases diagnosed from 1982 to 2015 in Brazilian patients*.
| Lysosomal storage disease | Number of confirmed diagnoses | Additional probable diagnosis** |
|---|---|---|
| Mucopolysaccharidoses | ||
| Mucopolysaccharidosis type I | 225 | 11 |
| Mucopolysaccharidosis type II | 343 | 4 |
| Mucopolysaccharidosis type IIIA | 52 | - |
| Mucopolysaccharidosis type IIIB | 88 | - |
| Mucopolysaccharidosis type IIIC | 52 | - |
| Mucopolysaccharidosis type IVA | 153 | - |
| Mucopolysaccharidosis type IVB | 13 | - |
| Mucopolysaccharidosis type VI | 238 | 3 |
| Mucopolysaccharidosis type VII | 20 | - |
| Multiple sulphatase deficiency | 6 | - |
| Glycoproteinoses | ||
| Aspartylglucosaminuria | 1 | - |
| Fucosidosis | 4 | - |
| Galactosialidosis | 19 | - |
| α-Mannosidosis | 7 | 1 |
| Mucolipidosis II/III | 41 | 8 |
| Sialidosis | 14 | - |
| Sphingolipidoses | ||
| Fabry disease | 104 | 3 |
| Gaucher disease | 725 | 2 |
| GM1 gangliosidosis | 175 | - |
| GM2 Tay-Sachs disease (44% B1) | 121 | 3 |
| GM2 Sandhoff disease | 28 | - |
| Krabbe disease | 96 | - |
| Metachromatic Leukodystrophy | 150 | - |
| Niemann-Pick type A/B disease | 199 | 5 |
| Other LSDs | ||
| Lysosomal acid lipase deficiency | 10 | 7 |
| Neuronal Ceroid lipofuscinosis 1 (CLN1) | 3 | - |
| Neuronal Ceroid lipofuscinosis 2 (CLN2) | 14 | 3 |
| Niemann-Pick type C | 150 | - |
| Pompe disease | 47 | 9 |
| Salla disease | 1 | - |
| Total | 3099 | 59 |
*
Classified as proposed by Kingma et al., 2015).
**
Cases with only one sample of DBS analyzed, not considered as confirmed cases.