Krabbe Disease

Diffuse Globoid Body Sclerosis; Galactosylceramidase Deficiency Disease; Galactosylceramide lipidosis; galactosylcerebrosidase deficiency; galactosylsphingosine lipidosis; GALC deficiency; globoid cell leukodystrophy (GCL, GLD); globoid cell leukoencephalopathy; late-onset Krabbe disease (LOKD); psychosine lipidosis

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel. Krabbe disease is caused by mutations in the GALC gene, which causes a deficienc ...