Krabbe diseaseGloboid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency
Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.
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).
Enzymes are complex proteins that cause a specific chemical change in all parts of the body. For example, they can help break down the foods we eat ...Read Article Now Book Mark Article
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.
Autosomal recessive disorder
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article
This condition is very rare. It is most common among people of Scandinavian descent.
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
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.
Exams and Tests
The health care provider will perform a physical exam and ask about the symptoms.
Tests that may be done include:
- Blood test to look for galactosylceramidase levels in white blood cells
- CSF total protein -- tests the amount of protein in cerebrospinal fluid (CSF)
- Genetic testing for the GALC gene defect
- MRI of the head
- Nerve conduction velocity
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.
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
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.
This disease damages the central nervous system. It can cause:
Central nervous system
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- Severe problems with muscle tone
The disease is usually life-threatening.
When to Contact a Medical Professional
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:
- Loss of consciousness
- Abnormal posturing
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.
Amniocentesis is a test that can be done during pregnancy to look for these problems in the developing baby:Birth defectsGenetic problemsInfectionLun...Read Article Now Book Mark Article
Chorionic villus sampling
Chorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.Read Article Now Book Mark Article
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.
Review Date: 4/24/2019
Reviewed By: Anna C. Edens Hurst, MD, MS, FACMG, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.