Galactocerebrosidase Deficiency

📋Overview

Galactocerebrosidase Deficiency is an inherited lysosomal storage disorder, also known as Krabbe disease, caused by mutations in the GALC gene. This genetic mutation results in a deficiency of the galactocerebrosidase enzyme, which is essential for the metabolic breakdown of specific lipids within the nervous system.

The absence of this enzyme leads to the accumulation of toxic compounds that damage the myelin sheath, the protective covering of nerve cells. This process results in progressive deterioration of the white matter in the brain and peripheral nerves, categorizing the condition as a leukodystrophy.