Krabbe Disease

**Semantic type:** Disease or Syndrome

**Definition:** A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.

**Synonyms:** - Galactosylceramide Beta-Galactosidase Deficiency - Galactosylceramide Lipidosis - Globoid Cell Leukodystrophy - Krabbe disease