Krabbe disease
KRABBE DISEASE
- Krabbe disease is an inherited autosomal recessive degenerative disorder that affects nervous system.
- It is caused due to deficiency of galactosylceramidase (GALC gene).
- It has a unique feature having white matter globoid cells.
- It is leukodystrophies.
Clinical features-
- Mental retardation
- Muscle weakness & later death
Exam Important
- Krabbe disease is an inherited autosomal recessive degenerative disorder that affects nervous system.
- It is caused due to deficiency of galactosylceramidase (GALC gene).
- It has a unique feature having white matter globoid cells.
- It is leukodystrophies.
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