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Condition

Krabbe Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Krabbe Disease?

Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.

What are the alternative names for Krabbe Disease?

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

What are the causes for Krabbe Disease?

A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase).

The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers. Without this enzyme, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.

Krabbe disease can develop at various ages:

  • Early-onset Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2.
  • Late-onset Krabbe disease begins in late childhood or early adolescence.

Krabbe disease is inherited, which means it is passed down through families. If both parents carry the nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. It is an autosomal recessive disorder.

This condition is very rare. It is most common among people of Scandinavian descent.

What are the symptoms for Krabbe Disease?

Symptoms of early-onset Krabbe disease are:

  • Changing muscle tone from floppy to rigid
  • Hearing loss that leads to deafness
  • Failure to thrive
  • Feeding difficulties
  • Irritability and sensitivity to loud sounds
  • Severe seizures (may begin at a very early age)
  • Unexplained fevers
  • Vision loss that leads to blindness
  • Vomiting

With late onset Krabbe disease, vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may also occur.

What are the current treatments for Krabbe Disease?

There is no specific treatment for Krabbe disease.

Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.

What are the support groups for Krabbe Disease?

These resources can provide more information about Krabbe disease:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes
  • NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/krabbe-disease
  • United Leukodystrophy Foundation -- www.ulf.org

What is the outlook (prognosis) for Krabbe Disease?

The outcome is likely to be poor. On average, infants with early-onset Krabbe disease die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.

What are the possible complications for Krabbe Disease?

This disease damages the central nervous system. It can cause:

  • Blindness
  • Deafness
  • Severe problems with muscle tone

The disease is usually life-threatening.

When should I contact a medical professional for Krabbe Disease?

Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call your local emergency number (such as 911) if the following symptoms occur:

  • Seizures
  • Loss of consciousness
  • Abnormal posturing

How do I prevent Krabbe Disease?

Genetic counseling is recommended for people with a family history of Krabbe disease who are considering having children.

A blood test can be done to see if you carry the gene for Krabbe disease.

Prenatal tests (amniocentesis or chorionic villus sampling) can be done to test a developing baby for this condition.

REFERENCES

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Lysosomal storage diseases. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 25.

Pastores GM, Wang RY. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 41.

Latest Research

Latest Advance
Study
  • Condition: Pediatric Patients with Inherited Leukodystrophies (LD)
  • Journal: Blood advances
  • Treatment Used: Cord Blood Transplantation
  • Number of Patients: 169
  • Published —
This study defined risk factors and describe the early and late outcomes of patients with globoid cell leukodystrophy, X-linked adrenoleukodystrophy, and metachromatic leukodystrophy undergoing cord blood transplantation (CBT).

Clinical Trials

Clinical Trial
Other
  • Status: Active, not recruiting
  • Participants: 1000
  • Start Date: August 20, 2018
Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL