PCYT2-Mangel · Phosphoethanolamine cytidylyltransferase 2 deficiency · PCYT2-related neurodegeneration · Ether lipid biosynthesis disorder · Progressive retinal, central, and peripheral neurodegeneration · Progressive retinal atrophy with neurodegeneration
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.
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.
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.
More conditions affecting the General / metabolic.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.