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Krabbe disease
Globoid 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.
Causes
A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase).
The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, 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. (See: Autosomal recessive pattern )
Autosomal recessive pattern
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...
This condition is very rare. It is most common among people of Scandinavian descent.
Symptoms
Symptoms of early-onset Krabbe disease are:
- Changing muscle tone from floppy to rigid
- Hearing loss that leads to deafness
-
Failure to thrive
Failure to thrive
Failure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and gender....
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- Irritability and sensitivity to loud sounds
-
Severe
seizures
(may begin at a very early age)
Seizures
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
Read Article Now Book Mark Article - Unexplained fevers
- Vision loss that leads to blindness
- Vomiting
Symptoms of 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
An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal posturing (rigid body movements and holding one's body in abnormal positions) in the late stages of the disorder.
Retina
The retina is the light-sensitive layer of tissue at the back of the eyeball. Images that come through the eye's lens are focused on the retina. Th...
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)
CSF total protein
CSF total protein is a test to determine the amount of protein in your spinal fluid, also called cerebrospinal fluid (CSF).
Read Article Now Book Mark Article - Genetic testing
-
MRI of the head
MRI of the head
A head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...
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Nerve conduction velocity
Nerve conduction velocity
Nerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve.
Read Article Now Book Mark Article - Testing for the GALC gene defect
Treatment
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.
Support Groups
United Leukodystrophy Foundation -- www.ulf.org
Outlook (Prognosis)
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.
Possible Complications
This disease damages the central nervous system . It can cause:
Central nervous system
The central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...
- Blindness
- Deafness
- Severe problems with muscle tone
The disease is usually life-threatening.
When to Contact a Medical Professional
Call your health care provider if your child develops symptoms of this disorder. Seizures, loss of consciousness , or abnormal posturing may be emergency symptoms.
Loss of consciousness
Decreased alertness is a state of reduced awareness. A coma is a state of decreased alertness from which a person cannot be awakened. A long-term co...
Prevention
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 screen a developing baby for this condition.
References
Kwon JK. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 592.
Vanier MT, Caillaud C. Disorders of sphingolipid metabolism and neuronal ceroid-lipofuscinoses. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment . 5th ed. New York, NY: Springer; 2012:chap 39.
Review Date: 4/20/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
