Definition:
Krabbé Disease is one of a group of genetic disorders called leukodystrophies.  Krabbé Disease is a rare disorder that affects 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.

There are four forms of Krabbé Disease: infantile, late infantile, juvenile, and adult-onset. The disease most often affects infants, with onset before 6 months of age, but can occur in adolescence and in adulthood. It affects one in 100,000 individuals in the United States. Some communities in Israel have found higher incidences of approximately six cases of the disease per 100,000 live births.

Symptoms:
Symptoms of Krabbé Disease include irritability, fever without an associated infection, seizures, difficulties in feeding, vomiting, and a severe decline of mental and motor development. Signs include weakness, spasticity, and a loss of vision and hearing.

Inheritance Pattern:
Krabbé Disease is an autosomal recessive disorder.

Life Expectancy:
Life expectancy is two years of age or younger.

Diagnosis and Testing:
Krabbé Disease can be detected through a blood test that indicates low levels of the enzyme galactosylceramidase (galactocerebrosidase) in white blood cells. An MRI of the affected individual’s head as well as tests that measure the speed of nerve signals can be performed to confirm a diagnosis. Gene testing which looks for the mutated gene, GALC, that causes the disorder can be performed along with tests that search for the presence of the globoid cells that are characteristic to this disorder.

Treatment:
There is no cure for Krabbé Disease but success has been forged in preventing much of the neurological impairment associated with this disease, by using umbilical cord blood stem cells prior to disease onset or with 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