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Glycogen storage disease (GSD-PGBM1) in the Basset Hound

Glycogen storage diseases (GSDs) are hereditary metabolic disorders in which too much glycogen is stored in various tissues due to faulty enzymes. A genetic variant in the RBCK1 gene was discovered in the Basset Hound, which leads to the formation of so-called polyglucosan storage bodies and can cause serious health problems. Affected dogs often initially show chronic vomiting and diarrhea, usually from around 8 to 12 months of age. Later on, progressive muscle weakness, exercise intolerance and serious heart problems with heart failure and even sudden cardiac death can occur.

As the disease progresses gradually and often causes only minimal changes in blood values at the beginning, genetic testing can provide valuable information for the diagnosis. In addition, carrier animals can be identified at an early stage using the genetic test, which is of great importance for responsible breeding planning.