The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
Abstract
The data on cases of lysosomal storage disorders (LSD) diagnosed in the Czech Republic between 1975 and 2008 were collected and analyzed. The overall prevalence of LSD in the Czech population (12.25 per 100 000) is comparable to that reported for the countries with well established and advanced diagnostics such as the Netherlands (14 per 100 000), Australia (12.9 per 100 000) a Italy (12.1 per 100 000).
Thirty-four different LSD were diagnosed in a total of 478 individuals. Gaucher disease was the most frequent with a birth prevalence of 1.13 per 100 000 births.
Among LSD groups lipidoses, mucopolysaccharidoses and neuronal ceroid lipofuscinoses were the most frequent (5.0, 3.72 and 2.29 per 100 000 live births, respectively). Glycoproteinoses , glycogenosis type II and mucolipidoses rarely occur in the Czech population.
Knowledge of the birth prevalence and carrier frequency of particular disorder is important in genetic counselling and for timely intervention when treatment is possible.