Study of rare diseases (EDER)

Many of the symptoms experienced in rare diseases such as Pompe, Gaucher and Fabry are the same as those of Central Sensitivity Syndrome.

The rare diseases of Pompe, Gaucher y Fabry are lysosomal in nature, with genetic alterations in which an enzyme – catalytic activity protein – fails, generating an accumulation of harmful substances for the cells of the organism.

Together with the Genzyme laboratory we carried out a study with the aim of detecting the possible existence of one of the known enzymatic defects through the extraction of capillary blood using a digital puncture. The sample is then collected on an approved chromatographic paper.