Krabbe disease is a genetic and degenerative condition of the central and peripheral nervous systems. It is caused by a shortage of galactocerebrosidase, which is an essential enzyme for myelin metabolism. Krabbe disease is one of a group of genetic conditions called the leukodystrophies, which impair the growth of the myelin sheath, the fatty covering that acts as an insulator around the nerve cells processes called axons, and cause severe deterioration of mental and motor skills. Myelin is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one of these enzymes. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness. Mutations in the GALC gene cause Krabbe disease.
Although there is no cure for Krabbe disease, results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow. 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.