What is Krabbe disease?
Krabbe disease, also known as globoid cell leukodystrophy, is a condition caused by the body not having enough of a specific enzyme called galactocerebrosidase. This enzyme is needed to build protective coatings around nerve cells in the body. Without this protective layer, many muscle and nervous system problems develop including muscle spasms, difficulty walking, vision and hearing problems, and eventually difficulty breathing and swallowing. Signs and symptoms of Krabbe disease most often begin around one year of age, although in some rare cases they don’t appear until adulthood.
How common is Krabbe disease?
About 1 in 100,000 babies is born with Krabbe disease each year.
What can be done for Krabbe disease?
People with Krabbe disease can be given an FDA approved oral medication, which may help lessen some symptoms of Krabbe disease. Some people with Krabbe disease are also candidates for investigational umbilical cord stem cell transplants, which can treat some symptoms of the disease. While medication and stem cell transplant aren’t cures for Krabbe disease, they can make many of the symptoms less severe, helping children with this condition experience a longer life.
How is Krabbe disease inherited?
Krabbe disease is caused by changes in the GALC gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the GALC gene, one from each parent, in order to have the disease. People who have only one copy of the altered GALC gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Krabbe disease through Eli screening, genetic counseling and additional testing in the parents is recommended.