Same genetic defect causes Pompe disease in both humans and dogs
Monday, February 18, 2013 - 12:30
in Biology & Nature
Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.