Krabbe disease, also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells.
Krabbe disease occurs in about 1 in 100,000 births. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. This condition is inherited in an autosomal recessive pattern.
Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances.
Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months.
Symptoms include:
- Irritability
- Unexplained fever
- Limb stiffness
- Seizures
- Feeding difficulties
- Vomiting
- Slowing of mental development
- Slowing of motor development
- Muscle weakness
- Spasticity
- Deafness
- Blindness
Infantile Krabbe disease is generally fatal before age 2. Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation. Persons with juvenile- or adult-onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer.
There is no cure for Krabbe disease. Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.