Krabbe disease

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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