Table 1 Characteristics of all Latin American pediatric ^a type 1 Gaucher patients

Gender, n (%)

n = 443

Male

201 (45.4)

Female

242 (54.6)

Genotype ^b , n (%)

n = 224

N370S/Rare allele^c

69 (31)

N370S/L444P

56 (25)

N370S/?^d

30 (13)

L444P/?^d

14 (6)

Rare allele^c/rare allele^c

13 (6)

N370S/IVS2 + 1

8 (4)

N370S/N370S

7 (3)

L444P/rare allele^c

7 (3)

N370S/84GG

6 (3)

L444P/L444P

4 (2)

Rare allele^c/?^d

3 (1)

N370S/D409H

2 (1)

D409H/rare allele^c

2 (1)

? ^d/?^d

2 (1)

IVS2 + 1/rare allele^c

1 (<1)

Age at diagnosis, n (%)

n = 443

0^a to <6 years

190 (43.8)

6 to <12 years

173 (40.1)

12 to <18 years

70 (16.1)

Treatment dose, mean ± SD, U/kg/2wks

Baseline

43.4 ± 16.61

After 8 years of imiglucerase

36.8 ± 12.37

Age at first infusion, n (%)

n = 443

0 to <6 years

122 (27.5)

6 to <12 years

180 (40.6)

12 to <18 years

141 (31.8)

Splenectomized patients , n (%)

33 (7.4%)

Distribution by country, n (%)

n = 443

Brazil

272 (61.4)

Argentina

78 (17.6)

Colombia

34 (7.7)

Venezuela

32 (7.2)

Chile

9 (2.0)

Mexico

7 (1.6)

Others^e

11 (2.5)

Ethnicity, n (%)

n = 443

Black/Caribbean

130 (29.3)

Caucasian, non-Jewish

121 (27.3)

Hispanic

116 (26.2)

Multi-ethnic, non-Jewish or Arab

15 (3.4)

American Indian

4 (0.9)

Jewish, Ashkenazi

4 (0.9)

Other

0 (0.0)

Unknown

53 (12.0)