Overview Of Sphingolipidosis, Krabbe’s Type
Sphingolipidosis, Krabbe’s Type is synonymous with the term Krabbe Disease. Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.
Commonly Associated With
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency
Causes Of Sphingolipidosis, Krabbe’s Type
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 Sphingolipidosis, Krabbe’s Type
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 & 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
Treatment Of Sphingolipidosis, Krabbe’s Type
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.