Pyruvate Dehydrogenase Phosphatase 1 Deficiency(PDP 1)
Also known as: PDP1 deficiency · PDP1-Mangel · Pyruvat-Dehydrogenase-Phosphatase-Mangel · Pyruvate Dehydrogenase Deficiency · Mitochondriale Myopathie · …
Overview
What it is
This is an inherited metabolic disorder affecting the muscles and nervous system, caused by a deficiency in the PDP1 enzyme. Without this enzyme, the mitochondria—the energy-producing structures within cells—cannot properly convert carbohydrates into usable energy. This leads to a rapid buildup of lactic acid in the body during physical activity.
How it presents
Affected dogs typically show symptoms as puppies, including extreme fatigue, rapid panting, and muscle weakness or collapse after minimal exercise. Owners may also observe a stiff, reluctant gait.
Treatment
The condition is incurable and requires lifelong management, including strict physical rest and a specialized high-fat diet. Lifetime supportive care and emergency treatment for metabolic complications typically cost between 1,500 and 6,000 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
Mitochondriale Myopathie DNA-Test(MM)
Primary testDNA testDieser Gentest identifiziert die ursächliche Mutation für die mitochondriale Myopathie, welche zu einer fehlerhaften Energiebereitstellung in den Muskeln führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Pyruvat-Dehydrogenase-Defizienz (PDHD) DNA-Test(PDHD)
Primary testDNA testEin Gentest, der die ursächliche Mutation im PDP1-Gen nachweist, um betroffene Hunde und symptomfreie Träger des Pyruvat-Dehydrogenase-Mangels zu identifizieren.
Issuing body: Embark
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
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Pyruvate Dehydrogenase Phosphatase 1 Deficiency?
This is an inherited metabolic disorder affecting the muscles and nervous system, caused by a deficiency in the PDP1 enzyme. Without this enzyme, the mitochondria—the energy-producing structures within cells—cannot properly convert carbohydrates into usable energy. This leads to a rapid buildup of lactic acid in the body during physical activity.
How is Pyruvate Dehydrogenase Phosphatase 1 Deficiency tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Mitochondriale Myopathie DNA-Test, Pyruvat-Dehydrogenase-Defizienz (PDHD) DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: Clumber Spaniel.