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. 2017 Mar 16;40(1):31–39. doi: 10.1590/1678-4685-GMB-2016-0268

Table 5. Minimal frequency of LSDs in Brazil and comparison with data from other countries.

Brazil1 Australia2 The Netherlands3 British Columbia3 Portugal3 Czech Republic3 Eastern Province of Saudi Arabia2 United Arab Emirates3
Disease Clinical phenotype Present study Meikle et al., 1999 Poorthuis et al., 1999 Applegarth et al., 2000 Pinto et al., 2004 Poupetova et al., 2010 Moammar et al., 2010 Al-Jasmi et al., 2013
α-N-Acetylgalactosaminidase deficiency Schindler disease; Kanzaki disease 0.20 0 0
Acid lipase deficiency Cholesterol ester storage disease; Wolman disease 0.011 0.19 0.58 0.27 1.0 0
Aspartylglucosaminuria 0 0.05 0.13 1.72 0
Cystinosis 0.52 0.68 1.0 0.25
Danon disease
Fabry disease Fabry disease 0.22 0.85 0.21 0.29 0.12 0.52 5.0 0.25
Farber lipogranulomatosis Farber disease 0.96
Fucosidosis 0.004 0.05 0 0 2.02
Galactosialidosis types I/II 0.02 0.04 0.39 0.77 0 1.0 0
Gaucher disease Gaucher disease 1.43 1.75 1.16 0.39 1.35 1.13 0.25
Globoid cell leukodystrophy Krabbe disease 0.14 0.71 1.35 0.29 1.21 0.4 0
Glycogen storage disease II Pompe disease 0.10 0.68 2.00 0.87 0.7 0.37 2.66
GM1-gangliosidosis types I/II/III 0.18 0.26 0.41 0.19 0.62 0.26 2.0 4.66
GM2-gangliosidosis type AB
GM2-gangliosidosis type I (B variant) Tay-Sachs disease 0.21 0.50 0.41 0.29 3.13 0.3 0.74
GM2-gangliosidosis type II (O variant) Sandhoff disease 0.04 0.26 0.34 0.19 1.49 0.19 5.0 1.21
α-Mannosidosis 0.016 0.09 0.09 0.12 0.38 1.0 1.51
β-Mannosidosis 0.13 0.12 0.16 0
Metachromatic leukodystrophy 0.21 1.09 1.42 0.58 1.85 0.69 1.5
Mucolipidosis type I Sialidosis types I/II
Mucolipidosis types II/III I-cell disease; pseudo-Hurler polydystrophy 0.06 0.31 0.24 0.29 2.7 0.22 1.35
Mucolipidosis type IIIC pseudo-Hurler polydystrophy
Mucolipidosis type IV
MPS I Hurler; Hurler-Scheie; Scheie syndrome 0.31 1.14 1.19 0.58 1.33 0.72 4.0 0.25
MPS II Hunter Syndrome 0.71 0.74 0.65 0.10 1.09 0.43 0
MPS IIIA Sanfilippo syndrome 0.08 0.88 1.16 0.29 0 0.47 0
MPS IIIB Sanfilippo syndrome 0.12 0.47 0.42 0.72 0.02 1.05
MPS IIIC Sanfilippo syndrome 0.09 0.07 0.21 0.12 0.42
MPS IIID Sanfilippo syndrome 0 0.09 0.10 0 0
MPS III (all types) Sanfilippo syndrome 0.29 2.0
MPS IVA Morquio syndrome 0.21 0.59 0.22 0.48 0.6 0.71 1.41
MPS IVB Morquio syndrome 0.016 0.14 0.02
MPS IV (both types) Morquio syndrome 0.22 4.0
MPS VI Maroteaux-Lamy syndrome 0.37 0.43 0.15 0.48 0.42 0.05 8.0 2.51
MPS VII Sly syndrome 0.026 0.05 0.24 0.29 0 0.02
MPS IX 0
Multiple sulphatase deficiency 0.011 0.07 0.05 0.10 0.48 0.26 0
Neuronal Ceroid Lipofuscinosis 1 (CLN1) Santavuori disease 0.0024
Neuronal Ceroid Lipofuscinosis 2 (CLN2) Jansky-Bielschowsky disease 0.02
Neuronal Ceroid Lipofuscinosis 3 (CLN3) Batten disease 5.0
Neuronal Ceroid Lipofuscinosis 5 (CLN5) Finnish variant late-infantile neuronal ceroid lipofuscinosis
Neuronal Ceroid Lipofuscinosis 6 (CLN6) Variant late-infantile neuronal ceroid lipofuscinosis
Neuronal Ceroid Lipofuscinosis 8 (CLN8) Northern epilepsy
Niemann-Pick type A/B Niemann-Pick disease 0.33 0.40 0.53 0.6 0.33 5.0 0.25
Niemann-Pick type C Niemann-Pick disease 0.304 0.47 0.35 2.2 0.91 1.0 0.25
Prosaposin deficiency Atypical Gaucher disease
Pycnodysostosis
Sialic acid storage disease Infantile free sialic acid storage disease; Salla disease 0.0024 0.19 0.07 0.19 0.02 0
Sialidosis 0.02 0.02 0.05 0 0.07 0
Sialuria
1

Total number of cases diagnosed from 2000 to 2013 (14 years) divided by the total number of births in the same period.

2

Total number of diagnosed cases within a certain period of time divided by the total number of births in the same period.

3

Total number of diagnosed cases born within a certain period of time divided by the total number of births in the same period.