Glycogen storage disease type Ia(GSD Ia)
Also known as: Glykogenspeicherkrankheit Typ Ia · Von Gierke Disease · Glucose-6-Phosphatase Deficiency · GSD1a · Glycogenosis Type Ia · …
Overview
What it is
Glycogen storage disease type Ia is an inherited metabolic disorder affecting the liver and kidneys. It is caused by a deficiency in a key enzyme needed to break down stored sugar, known as glycogen, into glucose for energy. Without this enzyme, glycogen builds up to damaging levels in these organs while the rest of the body suffers from a severe lack of fuel.
How it presents
Affected puppies typically show signs within the first few weeks of life, including extreme weakness, muscle tremors, seizures, and stunted growth due to dangerously low blood sugar. These symptoms progress rapidly and are life-threatening.
Treatment
There is no cure for this condition, and the prognosis is very poor, often leading to early euthanasia. Diagnostic testing and supportive care typically cost between 300 and 1500 EUR.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Glykogenspeicherkrankheit Typ Ia (GSD Ia) DNA-Test(GSD Ia)
Primary testDNA testDieser Gentest identifiziert die ursächliche Mutation im G6PC-Gen, um betroffene Hunde sowie klinisch gesunde Anlageträger (Heterozygote) sicher zu identifizieren.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
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 Glycogen storage disease type Ia?
Glycogen storage disease type Ia is an inherited metabolic disorder affecting the liver and kidneys. It is caused by a deficiency in a key enzyme needed to break down stored sugar, known as glycogen, into glucose for energy. Without this enzyme, glycogen builds up to damaging levels in these organs while the rest of the body suffers from a severe lack of fuel.
How is Glycogen storage disease type Ia tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Glykogenspeicherkrankheit Typ Ia (GSD Ia) DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: Malchi (Maltese x Chihuahua), German Pinscher.