Gaucher disease(GD)
Also known as: Morbus Gaucher · Glucosylceramidose · Glucocerebrosidosis · Acid beta-glucosidase deficiency · Gaucher-Krankheit · …
Overview
What it is
Gaucher disease is an inherited metabolic disorder where a deficiency in a specific enzyme prevents the body from properly breaking down certain fatty compounds. This leads to a harmful buildup of these substances inside cells, primarily damaging the liver, spleen, and central nervous system.
How it presents
Symptoms typically appear in early puppyhood and include visible tremors, difficulty coordinating movements, seizures, and a swollen abdomen due to an enlarged liver and spleen.
Treatment
There is no cure for this condition, and supportive care to manage pain and seizures typically costs between 500 and 2500 EUR. Because the disease is severe and degenerative, humane euthanasia is often necessary to prevent suffering.
How it's tested
Gaucher-Krankheit (GD) DNA-Test(GD)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im GBA-Gen, die zu einem Mangel des Enzyms Beta-Glukozerebrosidase führt.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Gaucher disease?
Gaucher disease is an inherited metabolic disorder where a deficiency in a specific enzyme prevents the body from properly breaking down certain fatty compounds. This leads to a harmful buildup of these substances inside cells, primarily damaging the liver, spleen, and central nervous system.
How is Gaucher disease tested?
Tests currently in our database: Gaucher-Krankheit (GD) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.