Krabbe Disease
Watch Video
Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive lysosomal storage disease characterized by a number of neurological signs and symptoms. It is caused by a mutation in galactocerebrosidase (GALC), which leads to an accumulation of the sphingolipids galactocerebroside and psychosine. Krabbe disease is therefore one of the sphingolipidoses, as the accumulation of psychosine leads to oligodendrocyte destruction and subsequent demyelination. It is also considered a leukodystrophy (hence "globoid cell leukodystrophy"), which is characterized by white matter degeneration in the brain. Leukodystrophies are caused by abnormal myelin development, which in Krabbe disease is secondary to psychosine accumulation. Unsurprisingly, Krabbe disease patients present with a number of neurological findings. This includes peripheral neuropathy, the signs and symptoms of which include hyper- and hypo-reflexia in addition to paresethesias. Similarly, optic nerve involvement can lead to optic atrophy and blindness.