Table 2 Birth incidence and birth prevalence of MLD
Author(s), year country | Time period | Birth incidence of MLD | Birth prevalence of MLD | Country/region reported | Number of diagnosed cases of MLD | Total population |
|---|---|---|---|---|---|---|
Artigalas et al. 2010 [9] Brazil | 2003–2007 | Minimum incidence of MLD: 0.67 per 100,000 live births | NR | Rio Grande do Sul, Brazil | 5 | 745,971 live births |
Gustavson and Hagberg. 1971 [10] Sweden | 1955–1965 | Birth incidence for late-infantile MLD: ~ 1 per 40,000 births (2.5 per 100,000 births)a | NR | Umeh and Uppsala, Sweden | 8 late-infantile; 1 juvenile | 316,786 total births |
Heim et al. 1997 [11] Germany | 1984–1990 | Minimal incidence of all MLD subtypes of both sexes: 0.6 per 100,000 live births | NR | Germany | 41 | NR |
Hult et al. 2014 [12] Sweden | 1980–2009 | Incidence of MLD: 1.73 diagnoses per 100,000 births, corresponding to 1 per 58,000 births | NR | Sweden | 36 | 2,080,791 births |
Koto et al. 2021 [16],b Japan | 1975–2013 | Birth incidence of MLD: 0.16 per 100,000c | NR | Japan | 83 (estimated number of patients) | NR |
NR | NR | 1.09 per 100,000 | Australia (Meikle et al. 1999) [14] | NR | NR | |
1.42 per 100,000 | Netherlands (Poorthuis et al. 1999) [17] | NR | NR | |||
1.85 per 100,000 | Portugal | NR | NR | |||
0.69 per 100,000 | Czech Republic | NR | NR | |||
1.43 per 100,000d | Turkey | NR | NR | |||
2.0 per 100,000 | USA (Bonkowsky et al. 2018) [123] | NR | NR | |||
Lugowska et al. 2011 [13] Poland | 1975–2004 1960–2009 | Estimated incidence: 0.38 per 100,000 live births based on diagnosed cases | Expected birth prevalence (based on carrier rates)e per 100,000 conceived fetuses • Cohort 1: 4.0 (95% CI: 1.7–9.6), or 1 in 25,000 • Cohort 2: 4.1 (95% CI: 1.4–12.4), or 1 in 24,390 • Pooled estimate: 4.1 (95% CI: 1.8–9.4), or 1 in 24,390 with two pathogenic mutations | Poland | 62 (1975–2004) 73 (1960–2009) | 16,332,700 (number of births between 1975 and 2004) 26,895,000 (number of births between 1960 and 2009) |
Meikle et al. 1999 [14] Australia | January 1980 to December 1996 | Incidence in 1000s:f 121 (1/121,000 = 0.83 per 100,000 births)a | Prevalence in 1000s:f 92 (1/92 000 = 1.09 per 100,000 births)a | Australia | 46 (35 postnatal, 11 prenatal) | 545 lysosomal storage disease diagnoses |
Poorthuis et al. 1999 [17] The Netherlands | • Late-infantile: 1965–1991g • Juvenile: 1954–1991g • Adult: 1927–1970g • Unspecified: (1957–1992)g | NR | Birth prevalence per 100,000: •  late-infantile: 0.52 • juvenile: 0.51 • adult: 0.24 • unspecified: 0.15   all: 1.42 | Netherlands | • Late-infantile: 28 • Juvenile: 41 • Adult: 23 • Unspecified: 11 • All: 103 | Number of live births: • Late-infantile: 5,346,384 (1965–1991) • Juvenile: 7,982,018 (1954–1991) • Adult: 9,517,068 (1927–1970) • Unspecified: 7,489,865 (1957–1992) |
Stellitano et al. 2016 [15] UK | 1997–2014 | Estimated lifetime risk per million UK live births: 5.8g (0.58 per 100,000 live births)a | NR | UK | 76 | 3758 notifications of children meeting criteria for progressive intellectual and neurological deterioration; diagnosed leukodystrophies n = 349 |
Zlotogora et al. 2016 [94] Israel | 2013–2014 | NR | NR | Israel | 9 carriersh,i | 891 Yemenite Jews |