Genetic Test
The SLC19A3 gene encodes thiamine transporter 2, a protein responsible for facilitating the cellular uptake of thiamine (vitamin B1), an essential micronutrient that cannot be synthesized by the body and must be obtained through diet or supplementation.
Thiamine plays a critical role in energy metabolism, particularly in the nervous system.
Defects in thiamine transporter 2 can lead to thiamine deficiency, which may result in severe neurological disorders, including beriberi, Wernicke’s encephalopathy, limb paralysis, mild intellectual disability, muscle tone abnormalities (dystonia), chronic encephalopathy, and even death.
This genetic test targets a specific mutation in the SLC19A3 gene that is associated with necrotizing encephalopathy.
Disease Description
Necrotizing encephalopathy is a rare inherited neuro-metabolic disorder caused by deficiencies in one or more critical enzymes.
It is characterized by progressive degeneration of the central nervous system, including the brain, spinal cord, and optic nerves.
Clinical signs typically develop early in life and progress rapidly.
While a small number of affected dogs may survive for several months to years before symptoms worsen,
the condition is ultimately life-threatening in the vast majority of cases.
