| Symbol
| GALCD
|
| Location
| 14q31.3
|
| Name
|
galactosylceramide beta-galactosidase deficiency |
| Other name(s)
|
Krabbe disease
globoid cell leukodystrophy |
| Corresponding gene
|
GALC
|
| Other symbol(s)
| GCL, GLD
|
| Main clinical features
|
manifested in the 3-6 month of life by marked irritability and hypersensitivity to external stimuli, fits of tonic rigidity and spastic quadriparesis leading to death at 1-3 years following a very rapidly progressive motor and mental deterioration
characterized by severe loss of myelin in the CNS and large multinucleated (globoid) cells in the white matter |
| Genetic determination
| autosomal recessive |
| Related entries
| including later onset variant forms occuring in childhood or in adulthood
|
| Function/system disorder
| metabolism/lysosomal |
|
| neurology |
| Type
| disease
|