TABLE 1
FROM:
Prevalence of lysosomal storage diseases in Portugal
Rui Pinto, Carla Caseiro, Manuela Lemos, Lurdes Lopes, Augusta Fontes, Helena Ribeiro, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Ana Marcão, Isaura Ribeiro, Lúcia Lacerda, Gil Ribeiro, Olga Amaral and M C Sá Miranda
BACK TO ARTICLETable 1. Relative frequency of LSD in Portugal
| Post- and prenatal | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Postnatal | North | Other regions | |||||||
| Disease | Studied since | No. of cases | Age at diagnosis | N | % Group | % Total | N | % Group | % Total |
| MPS IH+IS (Hurler/Scheie) | 1982 | 20 | 8 | 12.9 | 3.6 | 14 | 35.0 | 9.2 | |
| MPS IH (Hurler) | 17 | 0–19 | 6 | 9.7 | 2.7 | 13 | 32.5 | 8.5 | |
| MPS IS (Scheie) | 3 | 11–26 | 2 | 3.2 | 0.9 | 1 | 2.5 | 0.7 | |
| MPS II (Hunter) | 1982a | 22 | 1–25 | 21 | 33.9 | 9.5 | 3 | 7.5 | 2.0 |
| MPS III (Sanfilippo) | 1982 | 23 | 14 | 22.6 | 6.3 | 10 | 25.0 | 6.5 | |
| MPS IIIA (Sanfilippo A) | a | 3 | 3–18 | 0 | 0.0 | 0.0 | 3 | 7.5 | 2.0 |
| MPS IIIB (Sanfilippo B) | 17 | 1–27 | 13 | 21.0 | 5.9 | 5 | 12.5 | 3.3 | |
| MPS IIIC (Sanfilippo C) | a | 3 | 5–8 | 1 | 1.6 | 0.5 | 2 | 5.0 | 1.3 |
| MPS IVA (Morquio A) | 1982 | 10 | 0–16 | 6 | 9.7 | 2.7 | 5 | 12.5 | 3.3 |
| MPS VI (Maroteaux-Lamy) | 1982 | 15 | 1–22 | 10 | 16.1 | 4.5 | 6 | 15.0 | 3.9 |
| MPS VII (Sly) | 1982 | 1 | 1–1 | 0 | 0.0 | 0.0 | 1 | 2.5 | 0.7 |
| Multiple sulfatase deficiency | 1982 | 4 | 1–10 | 3 | 4.8 | 1.4 | 1 | 2.5 | 0.7 |
| Total mucopolysaccharidoses | 91 | 62 | 100.0 | 27.9 | 40 | 100.0 | 26.1 | ||
| GM1-gangliosidosis | 1982 | 9 | 0–2 | 4 | 3.3 | 1.8 | 6 | 6.5 | 3.9 |
GM2-gangliosidosis ( -subunit) | 1982 | 46 | 32 | 26.4 | 14.4 | 15 | 16.3 | 9.8 | |
| GM2-gangliosidosis (-subunit) infantile | 7 | 1–2 | 3 | 2.5 | 1.4 | 4 | 4.3 | 2.6 | |
| GM2-gangliosidosis (-subunit) juvenile | 30 | 2–14 | 23 | 19.0 | 10.4 | 8 | 8.7 | 5.2 | |
| GM2-gangliosidosis (-subunit) chronic | 9 | 10–44 | 6 | 5.0 | 2.7 | 3 | 3.3 | 2.0 | |
GM2-gangliosidosis ( -subunit) | 1982 | 3 | 1–3 | 3 | 2.5 | 1.4 | 1 | 1.1 | 0.7 |
| Krabbe | 1988b | 11 | 0–4 | 9 | 7.4 | 4.1 | 3 | 3.3 | 2.0 |
| MLD | 1982 | 21 | 20 | 16.5 | 9.0 | 2 | 2.2 | 1.3 | |
| MLD late infantile | 11 | 0–8 | 11 | 9.1 | 5.0 | 1 | 1.1 | 0.7 | |
| MLD juvenile | 3 | 4–13 | 2 | 1.7 | 0.9 | 1 | 1.1 | 0.7 | |
| MLD adult | 7 | 17–29 | 7 | 5.8 | 3.2 | 0 | 0.0 | 0.0 | |
| Fabry | 1982 | 4 | 32–51 | 1 | 0.8 | 0.5 | 3 | 3.3 | 2.0 |
| Gaucher | 1982 | 84 | 36 | 29.8 | 16.2 | 48 | 52.2 | 31.4 | |
| Gaucher type 1 early | 21 | 3–39 | 8 | 6.6 | 3.6 | 13 | 14.1 | 8.5 | |
| Gaucher type 1 late | 59 | 16–84 | 25 | 20.7 | 11.3 | 34 | 37.0 | 22.2 | |
| Gaucher neurologic (type 2 and 3) | 4 | 0–5 | 3 | 2.5 | 1.4 | 1 | 1.1 | 0.7 | |
| Niemman-Pick A+B | 1983 | 11 | 7 | 5.8 | 3.2 | 4 | 4.3 | 2.6 | |
| Niemman-Pick type A | 4 | 0–1 | 4 | 3.3 | 1.8 | 0 | 0.0 | 0.0 | |
| Niemman-Pick type B | 7 | 2–53 | 3 | 2.5 | 1.4 | 4 | 4.3 | 2.6 | |
| Niemman-Pick type C | 1985c | 18 | 1–27 | 9 | 7.4 | 4.1 | 10 | 10.9 | 6.5 |
| Total sphingolipidoses | 207 | 121 | 100.0 | 54.5 | 92 | 100.0 | 60.1 | ||
|
-Mannosidosis | 1982 | 3 | 8–22 | 1 | 16.7 | 0.5 | 2 | 22.2 | 1.3 |
|
-Mannosidosis | 1989 | 1 | 4–4 | 1 | 16.7 | 0.5 | 0 | 0.0 | 0.0 |
| Sialidosis | 1985 | 2 | 35–41 | 0 | 0.0 | 0.0 | 2 | 22.2 | 1.3 |
| Fucosidosis | 1982 | 1 | 5–5 | 0 | 0.0 | 0.0 | 1 | 11.1 | 0.7 |
| Galactosialidosis | 1982 | 2 | 0–2 | 2 | 33.3 | 0.9 | 3 | 33.3 | 2.0 |
| Aspartylglucosaminuria | 1990 | 3 | 9–10 | 2 | 33.3 | 0.9 | 1 | 11.1 | 0.7 |
| Total oligosaccharidoses | 12 | 6 | 100.0 | 2.7 | 9 | 100.0 | 5.9 | ||
| MLP II/III | 1982 | 11 | 10 | 4.5 | 2 | 1.3 | |||
| MLP II (I cell disease) | 7 | 0–1 | 7 | 3.2 | 1 | 0.7 | |||
| MLP III | 4 | 3–11 | 3 | 1.4 | 1 | 0.7 | |||
| Pompe | 1982 | 10 | 0–54 | 7 | 3.2 | 3 | 2.0 | ||
| Neuronal ceroid lipofuscinoses | 22 | 16 | 7.2 | 7 | 4.6 | ||||
| NCL1 (Santavuori) | 1999 | 2 | 6–27 | 2 | 0.9 | 0 | 0.0 | ||
| NCL2 (Jansky-Bielschowsky) | 1999 | 3 | 5–38 | 2 | 0.9 | 1 | 0.7 | ||
| NCL3 (Spielmeyer-Vogt) | 1999 | 10 | 11–28 | 7 | 3.2 | 4 | 2.6 | ||
| NCL6 | 2001 | 7 | 10–15 | 5 | 2.3 | 2 | 1.3 | ||
| Total LSD | 353 | 222 | 100.0 | 153 | 100.0 | ||||
Some diagnoses have been confirmed by
a O. van Diggelen and WJ Kleijer (Rotterdam).
b MT Vanier (Lyon) and D Wenger (Philadelphia).
c MT Vanier (Lyon). MPS=Mucopolysaccharidoses; p/MLP=Mucolipidoses; NCL=Neuronal Ceroid Lipofuscinoses.
