Krabbe Disease Symptoms, Diagnosis, and Treatment

Krabbe disease is a degenerative condition that affects the nervous system

Krabbe's leukodystrophy
Jensflorian/Wikimedia Commons/Creative Commons

Krabbe disease, also known as globoid cell leukodystrophy, is a degenerative genetic disease that affects the nervous system. People with Krabbe disease have mutations in their GALC gene. Because of these mutations, they don’t produce enough of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of the protective layer covering nerve cells, called myelin. Without this protective layer, our nerves cannot function properly, damaging our brains and our nervous system.

Krabbe disease affects an estimated 1 in 100,000 people worldwide, with higher incidences reported in some areas in Israel.

Symptoms of Krabbe Disease

There are four subtypes of Krabbe disease, each with their own onset and symptoms.

Type 1InfantileBegins between 3 to 6 months of age
Type 2Late InfantileBegins between 6 months and 3 years of age
Type 3JuvenileBegins between 3 to 8 years of age
Type 4Adult onsetBegins anytime after 8 years of age

Since Krabbe disease affects the nerve cells, many of the symptoms it causes are neurological. Type 1, the infantile form, accounts for 85 to 90 percent of cases. Type 1 progresses through three stages:

  • Stage 1: Begins around three to six months after birth. Affected infants stop developing and become irritable. They have a high muscle tone (muscles are stiff or tense) and trouble feeding.
  • Stage 2: More rapid nerve cell damage occurs, leading to loss of use of muscles, increasing muscle tone, arching of the back, and damage to vision. Seizures may begin.
  • Stage 3: Infant becomes blind, deaf, unaware of their surroundings, and fixed in a stiff posture. The lifespan for children with Type 1 is about 13 months.

The other types of Krabbe disease begin after a period of normal development. These types also progress slower than Type 1 does. Children generally do not survive more than two years after Type 2 begins.

Life expectancy for Types 3 and 4 varies, and symptoms may not be as severe.

How Krabbe Disease Is Diagnosed

If your child’s symptoms suggest Krabbe disease, a blood test can be done to see if they have a galactosylceramidase deficiency, confirming a Krabbe disease diagnosis. A lumbar puncture can be done to sample the cerebrospinal fluid. Abnormally high protein levels can indicate the disease. For a child to be born with the condition, both parents must carry the mutated gene — located on chromosome 14. If the parents carry the gene, their unborn child can be tested for a galactosylceramidase deficiency. Some states offer newborn testing for Krabbe disease.


There is no cure for Krabbe disease. Recent studies have pointed to hematopoietic stem cell transplantation (​HSCT), stem cells that develop into blood cells, as a potential treatment for the condition. HSCT works best when it is given to patients who have not yet shown symptoms or are mildly symptomatic.The treatment works best when given during the first month of life.

HCST can benefit those with late-onset or slowly progressive disease and children with infantile-onset disease if given early enough. While HCST will not cure the disease, it can provide a better quality of life — delaying disease progression and increasing life expectancy. However, HCST comes with its own risks and has a mortality rate of 15 percent.

Current research is investigating treatments targeting inflammatory markers, enzyme replacement therapy, gene therapy, and neural stem cell transplantation. These therapies are all in their beginning stages and are not yet recruiting for clinical trials.

Information for this article was taken from:
Tegay, D. H. (2014). Krabbe disease. eMedicine.

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