Definition:
Krabbé Disease is one of a group of genetic disorders called leukodystrophies. Krabbé Disease is a rare disorder that affects both the central and peripheral nervous systems and leads to the breakdown of the nerve’s protective myelin coating along with brain cells.

Krabbé Disease is caused by a deficiency of galactocerebrosidase, an enzyme essential for myelin metabolism.  The myelin sheath is a fatty covering that protects nerve fibers. Without it, the nerves in the brain cannot function properly.  Krabbé Disease is also characterized by the presence of cells that have more than one nucleus, also known as globoid cells.

Krabbé Disease affects one in 100,000 individuals in the United States.  Some communities in Israel have found higher incidences of approximately six cases per 100,000 live births.

Symptoms:
Symptoms of Krabbé Disease/Late Onset begin in late childhood or in early adolescence. Until symptoms appear, the individual affected appears normal. When symptoms appear, they typically include visual problems followed by walking difficulties and stiff muscles. Mental regression also occurs. The symptoms associated with Krabbé Disease/Late Onset vary widely from case to case. Even in cases where members within the same family have the disorder, a spectrum of symptoms can occur.

Inheritance Pattern:
Krabbé Disease is an autosomal recessive disorder.

Life Expectancy:
Individuals affected with Krabbe Disease/Late Onset can expect to live into their adulthood years.

Diagnosis and Testing:
Krabbé Disease can be detected via a blood test indicating low levels of the enzyme galactosylceramidase (galactocerebrosidase) in white blood cells. Mutation analysis of the GALC gene should show two mutations in affected individuals.

Treatment:
There is no cure for Krabbé Disease, but success has been forged to prevent much of the neurological impairment associated with this disease, by using umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation. Treatment includes supportive therapies to lessen some of the symptoms. Physical therapy may increase circulation and improve elasticity in the limbs affected.

Patient Groups:
Hunter’s Hope Foundation
P.O. Box 643
Orchard Park, NY 14127
www.huntershope.org
tel: (877) 984-4673
fax: (716) 667-1212
Jim Kelly
info@huntershope.org