What is Krabbe Disease?

Globoid Cell Leukodystrophy, more commonly known as Krabbe (crab a) Disease, is an inherited neurodegenerative lysosomal enzyme disorder affecting the central and peripheral nervous systems. Children who inherit the disorder lack an important enzyme (GALC) that is needed for the production of normal myelin (white matter) in the central and peripheral nervous systems. Myelin is the protective covering of the nerve cells and acts like insulation surrounding an electric wire. When the enzyme GALC is deficient it produces toxic substances in the brain, causing myelin loss, change to brain cells, and neurological damage. Progression of the disorder is rapid and death occurs in early childhood.

The Cause of Krabbe Disease

Krabbe disease is inherited in an autosomal recessive manner. If both parents carry a disease-causing mutation in the GALC gene there is a 25 percent chance of having a Krabbe affected child with each conception, a 50 percent chance that each offspring will be a carrier and a 25 percent chance of having a child who does not carry a disease causing mutation. This genetic disease is found in all ethnic groups. The carrier rate in the general population is estimated to be 1 in 125. Krabbe Disease occurs in about 1 in 100,000 births in the United States. Diagnosis can easily be made by testing the white cells from a blood sample for GALC activity.

New Treatments Are Available

Treatment of infantile patients who are diagnosed when significant symptoms are evident has been limited to supportive care and drug therapy to control irritability and spasticity. This treatment, however, will not prevent loss of nervous system function. And since Krabbe Disease hits early, and is quickly fatal, it is critically important that a diagnosis be made as early as possible. Recently, presymptomatic infantile and later-onset patients have been treated with bone marrow or cord blood transplantation. These transplants have altered or halted the disease process and saved the lives of children fortunate enough to have early diagnosis.

Early Diagnosis is Imperative

Newborn Screening for Krabbe Disease, other Leukodystrophies and Lysosomal Storage Disorders is necessary for detection at birth and the opportunity for effective treatment. Babies transplanted as early as 2 - 4 weeks of age have had a high success rate with cord blood or bone marrow transplant treatment. Research studies indicate that the use of transplantation therapy early in life provides healthy donor cells which produce enzyme in the blood and brain enabling children to live normal, to near normal, healthy lives. Prenatal testing for Krabbe Disease is available.