Table 5.
Mucopolysaccharidoses: 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 number of live births) | Prevalence per 100,000 | Carrier frequencyd |
|---|---|---|---|---|---|---|---|
| MPS I | 20e (17) | 1984–2008 | 2,772,559 | 20 | 138,628 | 0.72 | 186 |
| MPS II | 22 (19) | 1969–2005 | 4,906,700 | 21 | 233,652 | 0.43 | 116,826 |
| Male | 2,520,373 | 21 | 120,018 | 0.83f | |||
| MPS III A | 18 (14) | 1977–2006 | 3,648,541 | 17 | 214,620 | 0.47 | 232 |
| MPS III B | 1 | 1975–2008 | 4,261,897 | 1 | 4,261,897 | 0.02 | 1,032 |
| MPS III C | 5 (4) | 1984–1992 | 1,179,745 | 5 | 235,949 | 0.42 | 243 |
| MPS III (all types) | 24 | 23 | 109,502 | 0.91 | 165 | ||
| MPS IV A | 14 (9) | 1987–2003 | 1,826,473 | 13 | 140,498 | 0.71 | 187 |
| MPS IV B | 1 | 1975–2008 | 4,261,897 | 1 | 4,261,897 | 0.02 | 1,032 |
| MPS IV (A + B) | 15 | 14 | 136,986 | 0.73 | 185 | ||
| MPS VI | 2 (2) | 1968–1995 | 4,115,057 | 2 | 2,057,529 | 0.05 | 717 |
| MPS VII | 1 | 1975–2008 | 4,261,897 | 1 | 4,261,897 | 0.02 | 1,032 |
| MPS I–VII | 84 | 81 | 34,909 | 2.86 | 93 | ||
| MPS-unspecified | 32 (27) | 1960–1989 | 4,533,496 | 27 | 167,907 | 0.60 | 205 |
| MSD | 3 (1) | 1962–1969 | 1,144,467 | 3 | 381,489 | 0.26 | 309 |
| MPS all types | 119 | 111 | 26,865 | 3.72 | 82g |
MPS mucopolysaccharidosis, MSD multiple sulphatase deficiency
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
eHurler syndrom in 16 patients, Hurler/Scheie in 2 patients and Scheie syndrom in 2 patients
fMale live births
gCarrier frequency of MPS excluding MPS II