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.