Gangliosidosis, GM2, (AB variant), GM2A-related(GM2)
Also known as: GM2 Gangliosidosis AB Variant · GM2A-related gangliosidosis · GM2 Activator Protein Deficiency · Tay-Sachs Disease AB Variant · GM2-Gangliosidose AB-Variante
Overview
What it is
This is an inherited metabolic disorder where a deficiency in a specific activator protein prevents the body from breaking down certain lipid-sugar compounds. Because these compounds cannot be recycled, they build up to toxic levels inside the cells of the brain and nervous system. This accumulation causes progressive and severe damage to these vital tissues.
How it presents
Symptoms typically begin in early puppyhood, usually at just a few months of age. Owners will notice rapidly worsening signs such as movement difficulties, tremors, muscle weakness, and eventual blindness.
Treatment
There is no cure for this fatal condition, and treatment is limited to supportive care to maintain comfort. Palliative care and eventual humane euthanasia typically cost between 500 and 2500 EUR.
How it's tested
GM2-Gangliosidose (AB-Variante) DNA-Test(GM2-AB)
Primary testDNA testDieser DNA-Test identifiziert die Mutation im GM2A-Gen, die für den Mangel des GM2-Aktivatorproteins verantwortlich ist, um betroffene Hunde und Anlageträger frühzeitig zu erkennen.
Issuing body: Labogen
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 Gangliosidosis, GM2, (AB variant), GM2A-related?
This is an inherited metabolic disorder where a deficiency in a specific activator protein prevents the body from breaking down certain lipid-sugar compounds. Because these compounds cannot be recycled, they build up to toxic levels inside the cells of the brain and nervous system. This accumulation causes progressive and severe damage to these vital tissues.
How is Gangliosidosis, GM2, (AB variant), GM2A-related tested?
Tests currently in our database: GM2-Gangliosidose (AB-Variante) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.