Krabbe Disease: Symptoms & Signs

Medically Reviewed on 8/13/2021

Krabbe disease is a progressive, degenerative disorder of the nervous system that involves the destruction of myelin, the material that surrounds and insulates nerves.

Most of those affected have the infantile form of Krabbe disease. Signs and symptoms begin before 6 months of age and include

  • extreme irritability,
  • spasticity, and
  • developmental delay.

Other associated signs and symptoms can include

  • feeding difficulties,
  • unexplained crying,
  • declines in alertness,
  • loss of head control,
  • frequent vomiting,
  • seizures,
  • progressive loss of hearing and sight, and the
  • progressive loss of ability to swallow and breathe.

Neurological deterioration leads to death generally before 2 years of age.

Cause of Krabbe disease

Krabbe disease is caused by a mutation in the gene for galactosylceramidase (GALC), leading to the accumulation of galactocerebroside in tissues. The condition is inherited in an autosomal recessive manner, meaning that an affected individual must receive a defective gene copy from both parents.

Other krabbe disease symptoms and signs

  • Declines in Alertness
  • Developmental Delay
  • Extreme Irritability
  • Feeding Difficulties
  • Frequent Vomiting
  • Loss of Head Control
  • Progressive Loss of Ability to Swallow and Breathe
  • Progressive Loss of Hearing
  • Seizures
  • Spasticity
  • Unexplained Crying

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.