Krabbe's disease

What is Krabbe's Disease?

Krabbe's disease is a rare inherited degeneration disorder of the nervous systems. It affects the central and peripheral nervous systems. It is a disease that destroys the myelin coating of nerve cells, kills brain cells, and impairs growth and development. Krabbe's disease is part of a group of genetic disorders called leukodystrophies.

How it affects a person?

Krabbe's disease is caused by a mutation of the GALC gene. This mutation causes a shortage in galactocerebrosidas, being a neccesary enzyme for myelin metabolism, so it starts to accumulate. This then leads to myelin destruction. Myelin is the fatty covering around nerve fibers and lends its color to "white matter" of the brain. GALC is an essential enzyme in the break down of galactolipids, which is very present in the brain. So becuase of the lack of GALC, the brain tends to hold onto whatever galactolps are being made and creates cells called Globiod cells (meaning 2 nuclei are in 1 cell). These abnormal cells lead to the shutting down of the brain and ultimately a shorter life.

Who it affects?

Krabbe Disease affects 1 in every 100,000 people in the United States.
Early-onset Krabbe disease appears in the first months of life. Most children with this disease die around age 2.
Late-onset Krabbe disease begins in late childhood.
*Random Fact: Most common among Scandinavian descendants.


  • Muscle Tone Loss
  • Going deaf
  • Problems swallowing
  • Seizures
  • Going blind
  • Spasticity (spasms of muscles)
  • Loss of coordination
  • Mental recession

How Krabbe Disease is Diagnosed

A test of GALC activity from a blood sample or skin biopsy. Certain levels doesn't mean that the disease will occur quicker or slower. The disease can also be tested from DNA sequencing. This test can also be tested on parents before they have children to see if they have the chance of passing the disease on.


There is no cure for Krabbe's disease but there are treatments to prolong death and to maintain mobility. Bone marrow transplants can be done and also umbilical cord blood stem cells are used.

Krabbes Kids
Even though this is a rare disease, many kids have experienced it. It is very upsetting and when children are diagnosed with it, it is probably one of the worst diseases out there. Especially because there is no cure for it.
Here are some of the children who have experienced or died from Krabbe's Disease. Click on them and hear their stories:

This is a time-line of the Krabbe Disease symptoms that occured in a boy named Jud (R.I.P).