PCYT2 deficiency(PCYT2)
Also known as: PCYT2-Mangel · Phosphoethanolamine cytidylyltransferase 2 deficiency · PCYT2-related neurodegeneration · Ether lipid biosynthesis disorder · Progressive retinal, central, and peripheral neurodegeneration · …
Overview
What it is
PCYT2 deficiency is an inherited metabolic disorder affecting the nervous system and eyes, also known as progressive retinal, central, and peripheral neurodegeneration. A genetic defect impairs lipid (fat) metabolism, which leads to the progressive breakdown of nerve cells in the brain, peripheral nerves, and the retina (the light-sensitive tissue at the back of the eye). This disruption prevents normal cellular maintenance and leads to widespread neurological decline.
How it presents
The condition typically manifests at a young age with progressive movement disorders, a loss of coordination (ataxia), and muscle weakness that can eventually lead to paralysis. Owners may also notice signs of vision loss as the disease affects the eyes.
Treatment
There is no cure for this condition, and treatment is limited to lifelong supportive and palliative care to manage symptoms. Owners should expect ongoing veterinary and care expenses ranging from 1,500 to 6,000 EUR.
How it's tested
PCYT2-Defizienz DNA-Test(PCYT2)
Primary testDNA testDer Gentest identifiziert die ursächliche Mutation im PCYT2-Gen, welche zu einem gestörten Lipidstoffwechsel und fortschreitenden neurologischen Schäden führt.
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 PCYT2 deficiency?
PCYT2 deficiency is an inherited metabolic disorder affecting the nervous system and eyes, also known as progressive retinal, central, and peripheral neurodegeneration. A genetic defect impairs lipid (fat) metabolism, which leads to the progressive breakdown of nerve cells in the brain, peripheral nerves, and the retina (the light-sensitive tissue at the back of the eye). This disruption prevents normal cellular maintenance and leads to widespread neurological decline.
How is PCYT2 deficiency tested?
Tests currently in our database: PCYT2-Defizienz DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.