Epidemiology

Although individually rare, collectively the lysosomal storage diseases (LSDs) have an estimated frequency of about 1 in 7000 births.[5][6][7][8]​ In Australia, the combined prevalence of LSD for the period 2009 to 2020 was 1 per 4800, which is higher than the 1 per 7700 reported for a 17-year period up to 1996.[9]​

  • Gaucher disease is the most common LSD and has an incidence of about 1/40,000 people. It is much commoner among people of Ashkenazi Jewish origin, among whom the carrier frequency is 1 in 15 and the expected incidence is 1/850 people in this group.[10][11] Ashkenazi Jews are widely distributed throughout the world, including Israel, Central Europe, the US (particularly Florida and New York), and the UK (e.g., north London).

  • Fabry disease is generally considered the second most common LSD, with a frequency of about 1/100,000 people. Although it is sex-linked, heterozygous females are frequently symptomatic.[12] Up to 3% to 4% of adult male patients with cryptogenic stroke or unexplained left ventricular hypertrophy may have atypical Fabry disease.[13][14] One study showed that 1/3200 neonates in northern Italy have missense mutations in the alpha-galactosidase A gene, but many of these may be clinically silent.[15] The diagnosis is often missed in childhood.[16][17]

  • Pompe disease has an estimated frequency of 1/40,000 in black people in the US and in populations in Europe, but the later onset and milder forms may be commoner and undiagnosed.[5]

  • Mucopolysaccharidosis disorders are generally rare (≤1/100,000 people) but later-onset/attenuated forms may be under-diagnosed.[5]

  • Ashkenazi Jews have a higher incidence of several LSDs (e.g., Gaucher, Tay-Sachs, and Niemann-Pick type A diseases).[18]

  • Extended cohorts of people with type 3 Gaucher disease, Fabry disease, and Tay-Sachs variant of GM2 gangliosidosis have been reported in northern Sweden, Nova Scotia, and eastern Quebec (French Canadian population), respectively.[19][20]

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