Glycogen storage disease type II(GSD II)
Also known as: Pompe disease · Pompe-Krankheit · Glykogenose Typ II · Acid maltase deficiency · Glycogenosis type II · …
Overview
What it is
Glycogen storage disease type II is an inherited metabolic disorder where the body lacks a vital enzyme needed to break down glycogen, which is a stored form of sugar used for energy. Without this enzyme, glycogen builds up to toxic levels inside the cells of the muscles and major organs. This accumulation gradually damages and destroys these tissues, particularly affecting the skeletal muscles and the heart.
How it presents
Symptoms typically appear in puppies within the first few months of life, beginning with progressive muscle weakness, difficulty swallowing, and vomiting. As the disease rapidly advances, it leads to severe respiratory distress and heart failure.
Treatment
This condition is incurable and ultimately fatal, meaning treatment is limited to supportive care to maintain comfort. Veterinary costs for diagnostic testing and palliative care generally range from 500 to 2,000 EUR.
How it's tested
Glykogenspeicherkrankheit Typ II (GSD II) DNA-Test(GSD II)
Primary testDNA testEin DNA-Test, der die ursächliche Mutation im GAA-Gen nachweist, um betroffene Hunde und Anlageträger der Glykogenspeicherkrankheit Typ II zu identifizieren.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Glycogen storage disease type II?
Glycogen storage disease type II is an inherited metabolic disorder where the body lacks a vital enzyme needed to break down glycogen, which is a stored form of sugar used for energy. Without this enzyme, glycogen builds up to toxic levels inside the cells of the muscles and major organs. This accumulation gradually damages and destroys these tissues, particularly affecting the skeletal muscles and the heart.
How is Glycogen storage disease type II tested?
Tests currently in our database: Glykogenspeicherkrankheit Typ II (GSD II) DNA-Test.
Which breeds are most affected?
Most commonly affected: Finnish Lapphund (Suomenlapinkoira).