Introduction.

Pompe Disease or Pompe’s disease in international literature, is a metabolic disease of genetic origin that affects some mammals, including cattle of the Brahman and Shorthorn breeds and humans. The disease is due to an alteration in the gene that produces the enzyme acid alpha-glucosidase (GAA), necessary to remove glycogen from muscle tissue. The inheritance is recessive, therefore animals carrying an affected variant of the gene are clinically healthy but capable of transmitting the variant to 50% of their offspring, thus propagating the defect in the breed.

About the study

DNA extraction from any type of sample and detection of two variants in the GAA gene.