Krabbe Disease

Posted September 23, 2022 by Anusha ‐ 2 min read

Krabbe disease is a rare genetic disorder of the nervous system that usually results in death. People with Krabbe disease have a deficiency of galactosylceramidase production, which results in extensive degeneration of the myelin sheaths surrounding nerves in the brain.

Other names of Krabbe Disease

  • Galactocerebrosidase (GALC) deficiency

  • Galactocerebroside beta-galactosidase deficiency

  • Galactosylceramidase deficiency

  • Galactosylceramide lipidosis

  • Globoid cell leukoencephalopathy

  • Krabbe’s disease

Causes of Krabbe Disease

  • Krabbe disease is caused by a genetic mutation a permanent change in the DNA sequence that makes up a certain gene.

  • The mutation affects the product that the gene codes for.

  • The gene for Krabbe disease can be found on chromosome 14.

  • A child needs to inherit the abnormal gene from both parents to develop the disease.

  • The abnormal gene results in a shortage of an important enzyme that your body needs called galactosylceramidase (GALC).

Symptoms of Krabbe Disease

  • Excessive irritability

  • Difficulty swallowing

  • Vomiting

  • Unexplained fevers

  • Partial unconsciousness.

  • Muscle weakness

  • Pain

  • Numbness

  • Redness

  • Burning or tingling sensations

Diagnosis of Krabbe Disease

Imaging scans (MRI)

A doctor can use an MRI of the brain to look for abnormalities, which will show diffuse demyelination in children with this disease.

Nerve conduction studies

These studies measure the speed at which electrical impulses are sent through the nervous system

Eye examination

This examination looks for signs of damage to the optic nerve.

Genetic testing

Genetic testing can detect the genetic defect that causes Krabbe disease.


A diagnosis can also be made with amniocentesis prior to a child’s birth.

Treatment of Krabbe Disease

  • Palliative and supportive care are the only treatments available for most cases of Krabbe disease.

  • However, patients who are diagnosed before symptoms begin or in cases of later onset may be treated with a hematopoietic stem cell transplant (HSCT).

  • The transplant may stabilize the disease progression and extend the life of the treated person.

  • Bone marrow transplantation and stem cell therapy have been used in a small number of people with the disease.

  • And gene therapy is also a treatment used in experimental trials.

diseases disorders krabbe-disease

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