GALC
GALC, or galactosylceramidase, is a lysosomal enzyme encoded by the GALC gene on chromosome 14q31. It hydrolyzes galactosylceramide and psychosine, lipid substrates involved in myelin turnover. Deficiency of GALC causes Krabbe disease, a rare autosomal recessive lysosomal storage disorder.
Genetically, pathogenic variants in GALC lead to reduced or absent enzyme activity. More than a hundred disease-causing
Pathophysiology stems from accumulation of psychosine and related lipids due to GALC deficiency. Psychosine is cytotoxic
Clinical features of Krabbe disease vary by onset. The infantile form typically manifests within the first
Diagnosis relies on reduced GALC enzyme activity in leukocytes, fibroblasts, or dried blood spots, complemented by
Treatment is limited to disease-modifying approaches such as hematopoietic stem cell transplantation, most beneficial when given