Glycogen Storage Disease

Overview

Pompe's disease which is also know as GSDII (Glycogen Storage Disease Type II) is caused by deficiency of the acid alpha-glucosidase enzyme. This leads to accumulation of glycogen in the cells and abnormal glucose levels in tissues such as cardiac, skeletal, and smooth muscle.

It is an inherited autosomal recessive disease.

Characteristics and Symptoms

Affected dogs suffer from vomiting, regurgitation, progressive muscle weakness, exercise intolerance and heart problems.

Symptoms start at around seven month of age and affected dogs usually die around 1.5-2 years of age.

Prevention

Genetic testing is available to identify clear, carrier and affected dogs.

Possible Test Results :

  • Clear
  • Carrier
  • Affected
  • Hereditary Clear
  • Hereditary Carrier
  • Hereditary Affected

Glycogen Storage Disease is a recommended test for the following breeds :