Genetic Test
The GALC (Galactosylceramidase) gene encodes an enzyme that functions within lysosomes to hydrolyze galactose-containing ester bonds.
This enzyme plays a critical role in the degradation of certain sphingolipids necessary for normal nervous system function.
Mutations in the GALC gene are associated with Krabbe disease, a lysosomal storage disorder characterized by progressive neurological deterioration.
This genetic test targets a specific GALC mutation linked to Krabbe disease.
Disease Description
Krabbe disease, also known as globoid cell leukodystrophy, is a neurodegenerative disorder caused by damage to nerve fibers.
This damage impairs the proper transmission of nerve signals, preventing accurate communication between the brain and the rest of the body.
As a result, neurological function deteriorates, leading to impaired motor skills and abnormal sensory processing, including pain perception.
Ultimately, the brain is unable to effectively coordinate bodily functions, causing progressive disability.
