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 Behind 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.

Most Common Symptoms of Infantile Krabbe

• Feeding difficulties

• Unexplained crying

• Loss of head control

• Fevers

• Vomiting

• Extreme irritability

• Changes in muscle tone (limb and muscle stiffness, poor coordination of movements)

• Seizures

• Progressive loss of hearing and sight

• Spasticity (presence of spasms or consistently increased muscle tone)

• Loss of developmental milestones
   

Most Common Symptoms of Late-onset Krabbe

• Visual impairment progressing to blindness, which may be the initial sign

• Difficulty walking (called ataxia or gait disturbances)

• Loss of manual dexterity