Glycogen storage disease GSD II (Pompe)
Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose... mehr
Erkrankung
Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose in lysosomes. Affected dogs suffer from vomiting, progressive muscle weakness and loss of condition. Heart disease leads to death at about 1.5 years of age.
Erbgang
autosomal recessive
Testdauer
3-5 days after arrival of the sample in the lab (in case of sequencing 1-2 weeks)
