09/03/2026
Glycogen Storage Diseases (GSDs) are a group of metabolic disorders caused by defects in glycogen-processing enzymes. This test detects a mutation in the RBCK1 gene, linked to Polyglucosan Body Myopathy Type 1 (PGBM1) in Basset Hounds. The mutation leads to accumulation of abnormal glycogen (polyglucosan bodies) in muscle and cardiac tissue and is inherited in an autosomal recessive manner.
Affected dogs typically develop progressive muscle weakness, reduced exercise tolerance, and heart problems between 3 and 6 years of age. Cardiac glycogen buildup can cause cardiomyopathy, sometimes leading to sudden collapse or death. Early signs may be subtle, including lethargy, mild exercise intolerance, or respiratory difficulties.
This new test is available under test code H113.