| Overall (N = 36) |
---|---|
Age (yr) | |
Mean (SD) | 34.8 (14.9) |
Median (min:max) | 29.9 (18.6:65.9) |
Sex, n (%) | |
Female | 22 (61) |
Male | 14 (39) |
Race, n (%) | |
Asian | 2 (6) |
White | 32 (89) |
Other | 2 (6) |
Ethnicity, n (%) | |
Hispanic or Latino | 11 (31) |
Not Hispanic or Latino | 24 (67) |
Not Reported | 1 (3) |
Age at ASMD diagnosis (yr) | |
Mean (SD) | 18.0 (18.4) |
Median (min:max) | 6.4 (1:58) |
Years since ASMD diagnosis | |
Mean (SD) | 16.8 (13.5) |
Median (min:max) | 16.3 (0:51) |
ASM activity (peripheral leukocytes), nmol/h/mg | |
Mean (SD) | 0.119 (0.079) |
Median (min:max) | 0.10 (0:0.30) |
SMPD1 genotype, n (%) | |
Homozygous forArg610del | 5 (13.9) |
Heterozygous for Arg610del | 10 (27.8) |
Other variants | 21 (58.3) |