EC Paediatrics

Lysosomal storage diseases (LSD) are a group of 50 metabolic diseases, with the origin changes cause by bad function of the lysosome.

The purpose of this study is find cases of Pompe, Fabry or Gaucher disorders, using dried blood spot (DBS) during a period of 3 years.

The screening of these 3 disorders was during a period of 3 years, in two hospitals, one public in Macau, China and another private in Portugal, between 1-1-2020 to 31-12-2020 and 1-1-2023 to 31-12-2024, respectively.

We used DBS samples for enzyme study.

The criteria for determination was based on the flowchart designed by the author for Pompe, Fabry and Gaucher diseases.

All positive test need to be confirmed by whole blood and DNA study.

A total of 27 cases (Macau: 16, Portugal: 11) were screened using flowchart criteria:

Pompe - 22, Fabry - 2, Gaucher - 3.

The age of the patients was between 1 month to 31 years old.

The gender ratio was 1:1

We confirmed 3 cases, one of each diseases.

Whenever we have a patient with clinical symptoms, the first step is to do the enzymatic screening in the filter paper. The confirmation test is DNA study.

We can offer prenatal diagnosis and genetic counselling for the future pregnancy in these 3 diseases.

 Keywords: Pompe; Fabry; Gaucher; Dry Blood Spot

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