What do you need to know about Krabbe disease?

What do you need to know about Krabbe disease?

Krabbe disease. Overview. Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.

How is the Krabbe disease gene mutation inherited?

Krabbe disease is inherited in an autosomal recessive manner. [1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers.

What causes globoid cell leukodystrophy or Krabbe disease?

Krabbe disease, also called globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.

What happens to GALC enzymes in Krabbe disease?

Enzymes, such as GALC, are responsible for breaking down certain substances in a cell’s recycling center (lysosome). In Krabbe disease, the short supply of GALC enzymes results in the accumulation of certain types of fats called galactolipids.

Where are the mutations in Krabbe disease located?

Krabbe disease is caused by mutations in the GALC gene located on chromosome 14 (14q31), which is inherited in an autosomal recessive manner.

What does low GALC mean for Krabbe disease?

Very low or no GALC activity level may indicate Krabbe disease. Although the results help a doctor make a diagnosis, they don’t provide evidence of how quickly the disease may progress. For example, very low GALC activity doesn’t always mean that the condition will advance rapidly.

What happens to the galactolipids in Krabbe disease?

Your body needs GALC to make and maintain myelin, a substance that surrounds and helps protect your nerves. In people with Krabbe disease, who do not have GALC, a substance called galactolipids will build up in the brain. Galactolipids are stored by cells called globoid cells.