Table 4.
Lipidoses: data for calculation of birth prevalence
| Disease | No. of patients 1975–2008a,b | Years of birth | No. of live births | No. of patientsc | Prevalence (1 per numbers of live births) | Prevalence per 100,000 | Carrier frequencyd |
|---|---|---|---|---|---|---|---|
| Gaucher type I, early | 12 (10) | 1974–1996 | 3 090 902 | 12 | 257 575 | 0.39 | 254 |
| Gaucher type I, late | 29 (28) | 1945–1980 | 5 956 028 | 24 | 248 168 | 0.40 | 249 |
| Gaucher type II and IIIe | 8 (8) | 1980–1998 | 2 352 492 | 8 | 294 062 | 0.34 | 271 |
| Gaucher (all types) | 49 | 44 | 88 397 | 1.13 | 149 | ||
| Niemann-Pick A | 10 (8) | 1963–2002 | 5 480 885 | 10 | 548 089 | 0.18 | 370 |
| Niemann-Pick B + atypf | 13 (11) | 1948–1996 | 7 362 146 | 11 | 669 286 | 0.15 | 409 |
| Niemann-Pick A/B | 23 | 21 | 301 327 | 0.33 | 274 | ||
| Niemann-Pick Cg | 54 (45) | 1965–2003 | 5 271 310 | 48 | 109 819 | 0.91 | 166 |
| Fabryh | 49 (24) | 1945–2002 | 8 518 601 | 44 | 193 605 | 0.52 | 96 803 |
| Male | 4 382 068 | 44 | 99 592 | 1.00n | |||
| Fabry female | 78 (24) | 1945–2005 | 8 812 161 | 68 | 129 591 | 0.77 | |
| Krabbei | 15 (15) | 1977–2002 | 3 249 150 | 13 | 249 935 | 0.40 | 250 |
| MLD infantile | 13 (11) | 1970–1999 | 4 195 564 | 13 | 322 736 | 0.31 | 284 |
| Juvenile | 5 (4) | 1970–2004 | 4 661 324 | 5 | 932 265 | 0.11 | 483 |
| Adult | 7 (7) | 1968–1980 | 2 188 004 | 6 | 364 667 | 0.27 | 302 |
| MLD (all types) | 25 | 24 | 144 647 | 0.69 | 190 | ||
| CESD, Wolmanj | 18 (15) | 1963–2002 | 5 480 885 | 15 | 365 392 | 0.27 | 302 |
| GM1 gangliosidosis | 13 (13) | 1970–2003 | 4 563 660 | 12 | 380 305 | 0.26 | 308 |
| GM2 Tay-Sachsk | 10 (10) | 1971–1992 | 3 362 889 | 10 | 336 289 | 0.30 | 290 |
| GM2 Sandhoff | 3 (3) | 1992–2007 | 1 594 949 | 3 | 531 650 | 0.19 | 365 |
| Lipidoses all types | 259l/337m | 234l/302m | 20 000 | 5.0l/5.77m | 71o |
MLD Metachromatic leukodystrophy, CESD cholesteryl ester storage disease
aTotal number of patients diagnosed between 1975 and 2008
bNumber of families with particular disorder in parentheses
cNumber of patients taken for the calculation of birth prevalence. To avoid underestimation, some patients were not included into the prevalence calculation (e.g., patients born before 1945 were excluded). For prevalence definition, see “Patients and Methods”
dExpressed as 1 carrier per number of shown live births
eOne stillborn case
fNP type B in 6 slowly progressive visceral cases and atypical protracted neurovisceral phenotype in 7 cases [Pavlů-Pereira H, et al. J Inherit Metab Dis 2005;28:203–227]
gIncluding one case of NP type C2 [Elleder M. et al. Virchows Arch 2001;439:206–211]
hClassical phenotype in 43 male patients and cardiac variant in 6 male patients (two families) [Elleder M, et al. Cas Lek Cesk 1990;129:368–372]
iInfantile form in 12 patients, late infantile in 2 patients, and adult form in one patient [Kostalova E, et al. Ceska Slov Neurol Neurochir 2006;69/102:200–210]
jOne infantile patient (Wolman disease) and 17 juvenile and adult cases [Elleder M, et al. Cas Lek Cesk 1999;138:719–724]
kIncluding two adult patients
lFabry females not included
mFabry females included
nMale live births
oCarrier frequency of lipidoses except for Fabry disease