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. 2021 Dec 17;45(1):e20210253. doi: 10.1590/1678-4685-GMB-2021-0253

Table 2 -. Comparison of number of diagnoses corfirmed and to be confirmed performed by LIEM-MGS during TIME A and TIME B.

Disorder Time A Time B
Confirmed To be confirmed Confirmed To be confirmed
α-Mannosidosis 1 0 0 0
Congenital disorders of glycosylation (CDG) 0 3 0 1
Biotinidase deficiency 2 0 2 0
Lysosomal acid lipase deficiency / Wolman 1 1 0 1
Fabry disease 4 0 2 0
Classic Galactosemia 2 0 1 1
GM1 gangliosidosis / Galactosialidosis / MPS IVB 0 7 0 5
GM1 gangliosidosis / Galactosialidosis 0 3 0 4
GM1 gangliosidosis 0 0 4 0
Galactosialidosis / MPS IVB 0 1 0 0
Galactosialidosis 1 0 0 0
Gaucher disease 18 2 10 2
Krabbe disease 8 1 5 0
Neuronal ceroid lipofuscinosis (CLN1) 4 0 1 0
Neuronal ceroid lipofuscinosis (CLN2) 5 6 10 14
Mucolipidosis I/II 0 8 0 2
Metachromatic leukodystrophy 7 0 3 0
Metachromatic leukodystrophy / Pseudo Arylsulfatase A deficiency 0 4 0 0
Metachromatic leukodystrophy / Multiple sulfatase deficiency 0 3 0 1
Mucopolysaccharidosis Types I,II,VII 0 3 0 1
Mucopolysaccharidosis Type I 8 2 3 1
Mucopolysaccharidosis Type II 27 9 8 1
Mucopolysaccharidosis Type IIIA 5 0 3 0
Mucopolysaccharidosis Type IIIB 7 10 3 0
Mucopolysaccharidosis Type IIIC 5 4 0 2
Mucopolysaccharidosis Type IIID 0 0 1 0
Mucopolysaccharidosis Type IVA 12 18 9 11
Mucopolysaccharidosis Type IVB 0 0 0 0
Mucopolysaccharidosis Type VI 11 2 17 4
Mucopolysaccharidosis Type VII 2 0 0 0
Niemann-Pick A disease 2 0 3 0
Niemann-Pick B disease 2 0 2 0
Niemann-Pick A and B disease 1 0 0 1
Pompe disease 6 0 0 1
Porphyria 0 1 0 0
Sandhoff 1 1 0 0
Sialidosis 1 0 0 0
Smith Lemli Optiz Syndrome 1 0 3 0
Tay-Sachs 0 1 4 2
Tay-Sachs B1 3 1 3 3
Type I Tyrosinemia 4 0 2 1
Total 151 91 99 59