Krabbe Disease

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.

Amniocentesis #

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.