Glucose-6-phosphate dehydrogenase deficiency(G6PD)
Also known as: Glucose-6-Phosphat-Dehydrogenase-Mangel · G6PD deficiency · G6PD-Mangel · Erythrozyten-G6PD-Mangel
Overview
What it is
This is an inherited genetic condition affecting the red blood cells, where a missing enzyme makes these cells fragile. Without enough of this enzyme, the red blood cells can prematurely rupture and break down when exposed to certain oxidative triggers like specific foods or medications. This premature destruction of red blood cells is known as hemolysis and can lead to anemia.
How it presents
Owners may notice sudden episodes of extreme weakness, pale or yellowish gums, and dark, tea-colored urine, often triggered by an infection or exposure to certain drugs. These symptoms can appear at any age when a trigger is encountered, though they are often first noticed in young adulthood.
Treatment
While the underlying enzyme deficiency is lifelong and cannot be cured, the condition is highly manageable by strictly avoiding known trigger medications and toxins. If an acute crisis occurs, emergency supportive care or blood transfusions may be needed, with treatment costs typically ranging from 500 to 4000 EUR.
How it's tested
G6PD-Defizienz Gentest(G6PD)
Primary testDNA testEin Gentest identifiziert die ursächliche Mutation im G6PD-Gen, welche für den Mangel an Glucose-6-Phosphat-Dehydrogenase und die damit verbundene Hämolyseanfälligkeit verantwortlich ist.
Issuing body: Embark
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 Glucose-6-phosphate dehydrogenase deficiency?
This is an inherited genetic condition affecting the red blood cells, where a missing enzyme makes these cells fragile. Without enough of this enzyme, the red blood cells can prematurely rupture and break down when exposed to certain oxidative triggers like specific foods or medications. This premature destruction of red blood cells is known as hemolysis and can lead to anemia.
How is Glucose-6-phosphate dehydrogenase deficiency tested?
Tests currently in our database: G6PD-Defizienz Gentest.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.