Krabbe Disease (GALC)

Krabbe disease is an autosomal recessive disorder caused by pathogenic variants in the gene GALC. While it has been identified in patients worldwide, it is more prevalent in specific groups of Druze and Muslim Arabs in Israel. The classical form of the disease has an onset in infancy. After several months of normal development, infants become irritable and develop spasticity and rigidity. Psychomotor and mental regression proceeds rapidly, and the infant becomes blind and non-responsive within several weeks or months. The average life span is 13 months. Approximately 15% of patients have a later-onset form of the disease, in which the severity is highly variable. Onset can occur anywhere between the age of 1 year and middle age, and deterioration proceeds more slowly. Specific variants have been determined to cause the infantile or late-onset forms of the disease, and therefore the phenotype may predicted for most genotypes.

For information about carrier frequency and residual risk, please see the residual risk table.