Globoid Cell Leukodystrophy, more commonly known as Krabbe (crab ā) 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.
Krabbe Disease has four phenotypes: early infantile, later onset infantile, adolescent, and adult. Progression of the disorder is rapid and death occurs in early childhood in the infantile types.
One in 100,000 live births in the United States are afflicted with Krabbe Disease. Approximately 2 million people (or one out of 125) in the United States are carriers of the genetic deficiency that causes Krabbe Disease. Yet, awareness about this disease is very limited. Until recently the only treatment options were limited to symptom management and palliative care.
Now, a new and revolutionary treatment, Cord Blood Transplant is saving the lives of many sick, young children and babies. This new method of treatment is bringing new hope to those afflicted with a variety of diseases including Krabbe, other Leukodystrophies and Lysosomal Storage Disorders.
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.
Signs & Symptoms (Infantile)