What Causes Krabbe Disease?

Krabbe disease, also known as globoid cell leukodystrophy, is a genetic disorder that affects the nervous system and brain. It has no cure. According to the Mayo Clinic, it is fairly rare, affecting only one in every 100,000 individuals in the U.S. Most cases of the disease appear in babies under the age of 1, and it usually is fatal.

Myelin

• When you have Krabbe disease, your body is deficient in the enzyme galactocerebrosidase. You need this enzyme to maintain myelin, the fatty substance that surrounds and insulates your nerve fibers. Without myelin, nerves become damaged, affecting motor and mental skills. In infants, this leads to Krabbe disease symptoms such as loss of head control, poor coordination, stiff limbs, muscle spasms and progressive loss of hearing and sight.

Globoid Cells

• According to the National Institute of Neurological Disorders and Stroke, people with Krabbe disease have globoid cells that can destroy myelin and brain cells. A globoid cell is an abnormal cell with multiple nuclei. These cells store compounds known as galactolipids. Galactocerebrosidase breaks down these compounds as part of the process of creating myelin; without it, galactolipids will accumulate in your brain.

Psychosine

• Psychosine is a type of galactolipid. According to the Mayo Clinic, elevated levels of psychosine are thought to be the culprit for most of the myelin damage that results from Krabbe disease.

Inheritance

• In order for a child to have Krabbe disease, he or she must inherit a nonfunctioning galactocerebrosidase gene from both parents. According to Healthline, your child has a 25 percent chance of inheriting the disease if both parents are carriers of this gene.

Incidence

• By inheriting a nonfunctioning gene from only one parent, a child will not develop the disease itself but instead will become a carrier, too. Krabbe disease is more prevalent in Israeli and Swedish communities, according to the Mayo Clinic.