Krabbe Disease Overview
Learn About Krabbe Disease
Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency
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.
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.
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.
Shibani Kanungo is a Pediatrics specialist and a Medical Genetics provider in Kalamazoo, Michigan. Dr. Kanungo and is rated as an Advanced provider by MediFind in the treatment of Krabbe Disease. Her top areas of expertise are Von Gierke Disease, Krabbe Disease, Smith-Lemli-Opitz Syndrome, and Glycogen Storage Disease Type 0. Dr. Kanungo is currently accepting new patients.
Msu Health Care Inc
Suad Khalil is a Pediatric Neurologist and a Pediatrics provider in East Lansing, Michigan. Dr. Khalil and is rated as an Experienced provider by MediFind in the treatment of Krabbe Disease. Her top areas of expertise are Krabbe Disease, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), and Adrenoleukodystrophy (ALD). Dr. Khalil is currently accepting new patients.
Kabelo Thusang is a Pediatric Neurologist and a Neurologist in East Lansing, Michigan. Dr. Thusang and is rated as an Experienced provider by MediFind in the treatment of Krabbe Disease. His top areas of expertise are Brown-Sequard Syndrome, Herpes Simplex Encephalitis, Krabbe Disease, and Encephalitis. Dr. Thusang is currently accepting new patients.
More information and support for people with Krabbe disease and their families can be found at:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes/s
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6844/krabbe-disease
- United Leukodystrophy Foundation -- 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:
- Blindness
- Deafness
- Severe problems with muscle tone
The disease is usually life-threatening.
Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call 911 or the local emergency number if the following symptoms occur:
- Seizures
- 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.
Prenatal tests (amniocentesis or chorionic villus sampling) can be done to test a developing baby for this condition.
Summary: The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/o...
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...
Published Date: April 24, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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