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For more information on Krabbe disease, visit HuntersHope.org and KrabbeConnect.org.
The fluid surrounding the brain and spinal cord. Doing tests on this fluid rather than the blood can help doctors get a better picture of what levels are like in the brain.
A test that measures how much of an enzyme there is in the blood. Low or absent enzyme levels can point toward a diagnosis.
Growing fibroblasts in the lab. Fibroblasts are found in the skin or other connective tissue. Doing tests on fibroblasts sometimes gives doctors a better idea of what’s happening in the body’s tissues than testing on blood, especially if someone has had a stem cell transplant before.
An enzyme, or protein, the body uses to break down certain types of fats called galactolipids. If there isn’t enough GALC, these galactolipids can build up and cause problems in the nervous system (brain, spinal cord).
A test used to measure the amount of galactocerebrosidase in the blood.
Small parts of DNA that give instructions to make something the body needs.
A type of genetic condition that affects the white matter of the brain, spinal cord and other nerves.
A group of genetic conditions involving part of the cell called the lysosome. Lysosomes help break down things in the cell. If something isn’t working correctly in the lysosome things that are either toxic or that cause the cells to not work properly can build up, which causes the symptoms of each condition.
A protective layer or protein and fats around nerve cells.
A test that looks for nerve damage by measuring how fast electricity is moving between nerves.
A toxic lipid, or fat, that builds up in the brain in Krabbe disease.
A test used to measure metabolites in the body. These include amino acids (the building blocks of proteins) and acylcarnitines (used in making energy). Checking to see if there is too much or too little of one of these metabolites in the blood can help point doctors to a diagnosis.