Krabbe's Disease

Krabbe disease is named after Knud Haraldsen Krabbe----the Danish neurologist who discovered the disease. Krabbe disease, also known as galactosylceramide lipidosis or globoid cell leukodystrophy, is a regressive disorder that influences the functions of the nervous system. It is a genetic disorder that is extremely rare in the United Sates----about 10 people out of one million suffer from Krabbe disease. It belongs to the class of disorders called leukodystrophies, which are characterized by a deficiency in myelin (a neuron insulation that helps speed up the propagation of nerve impulses).

Early-onset

• In 90 percent of Krabbe disease cases, the symptoms usually appear in the first few months of a child's life (early-onset Krabbe disease). The symptoms include: irritability, severe fever, vomiting, problems with feeding, muscles spasms, seizures, paralysis, hearing loss leading to deafness, vision loss leading to blindness, and mental deficiencies.

Late-onset

• In rare cases, Krabbe disease may develop in older children or adolescents (late-onset Krabbe disease). The symptoms of late-onset Krabbe disease are not as severe or as progressive as the symptoms of infantile Krabbe disease. Adolescents and adults suffering from Krabbe disease mostly experience muscles weakness with little or no mental deficiencies.

Cause

• The parents of a child who suffers from Krabbe disease don't necessarily exhibit any of the signs and symptoms associated with the disorder. Krabbe disease is triggered in children who inherit a defective gene from both parents. This genetic defect causes a deficiency in galactocerebrosidase (GALC), which is an enzyme that is crucial for maintaining myelin. A GALC deficiency results in high levels of psychosine, which causes self-destruction of the cells that create myelin. Without myelin, the nerve cells lose the ability to function properly.

Treatment

• There is no cure for Krabbe disease but there are some treatments aimed at relieving symptoms like seizures and vomiting. In adults, bone marrow transplantation and cord blood transfusion have been tried with little success. Gene therapy (replacing defected genes with normal ones) is a treatment that may be available in the future as a cure for Krabbe disease and other genetic disorders.

Prognosis

• Krabbe disease is an extremely fatal disease that has no cure. Infants suffering from Krabbe disease generally die before their first birthday and have little or no hope of surviving the second year. People who suffer from late-onset Krabbe disease can survive until they are adults, but are severely hampered by a damaged nervous system. They eventually suffer from blindness, deafness and loss of muscle tone.