As a general rule, Lysosomal Disease can affect virtually anyone.

Certain ethnicities are at greater risk for developing specific lysosomal disorders. For example, Gaucher disease, Niemann-Pick, and Tay-Sachs disease affect Ashkenazi Jewish populations at higher rates. One in 855 Ashkenazi Jews are affected with Gaucher disease and one in 3900 are affected by Tay-Sachs disease.

Another disorder, aspartylglycosaminuria, has been shown to be as high as 1 in 18,500 persons in the Finnish population. Other studies have looked at the prevalence of Lysosomal Disease in different countries but these studies have not been comprehensive nor have they investigated all Lysosomal disorders.

All lysosomal disorders are inherited. They tend to affect equally males and females, with the exception of Fabry disease and Mucopolysacchariodosis (MPS) type II. These two disorders are inherited on the X chromosome and, consequently, affect males more than females.

As awareness of Lysosomal Disease grows and as advances are made to develop neonatal screenings, more studies need to be performed to accurately measure the prevalence of these disorders individually as well as a group.

If you are concerned about your child or about your own carrier status, contact a genetic counselor to discuss screening options.