From: Fabry disease
Methods | Source | Ascertainment period | Total number of cases | No. per 100000 | Country and reference |
---|---|---|---|---|---|
Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of births) | Two centres holding all enzymatic analyses in Australia | 1980-1996 | 36 | 0.85 | Australia [34] |
Birth prevalence (number of cases born within a certain period divided by total number of live births in the same period) | All the laboratories making pre- and postnatal diagnoses of LSDs in The Netherlands | 1970-1996 | 27 | 0.21 | The Netherlands [33] |
Prevalence of obligate carriers | By family history, from the UK AFD register | 1980-1995 | 60 | 0.29 | UK (females only) [26] |
Prevalence | Records from regional genetic units and enzyme reference laboratories; records from individual doctors | 1980-1995 | 98 | 0.27 | UK (males only) [425] |
Birth prevalence (number of cases born within a certain time period divided by total number of live births in the same period) | Two main reference centres for diagnosis of sphingolipidoses by enzyme analysis of patients under 5 years suspected of LSD | 1997-2002 | 1 | 0.015 | Turkey [426] |
Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of live births) in north Portugal | One centre providing all pre- and postnatal diagnoses of LSDs in Portugal | 1982-2001 | 1 | 0.12 | North Portugal [427] |
Neonatal screening | Northern Italy | 2004-2006 | 12 | 30 | Italy [35] |
Neonatal screening | Taiwan | 2006-2008 | 73 | 80 | Taiwan [36] |