Krabbe disease

Krabbe disease is an inherited disorder characterized by progressive muscle weakness and stiffness, feeding problems, slowed mental and physical development, vision loss, and seizures. It involves a deficiency in the enzyme galactocerebrosidase (GALC), which is important in the growth and maintenance of myelin, the protective covering around nerve cells. The symptoms of Krabbe disease are due to the abnormal breakdown of myelin and the build-up of toxic byproducts in the body. Krabbe disease is also known as galactocerebrosidase deficiency and globoid cell leukodystrophy. View testing options