Krabbe Disease Facts

Krabbe disease is a rare genetic disease in which the protective covering that surrounds nerves fails to form. Krabbe disease usually appears in infants, and it causes progressive disability before leading to the patient's death. Treatments, such as bone marrow transplants, from strangers that induce the patient's body to produce a new kind of blood can help slow the progression of Krabbe disease, but no cure currently exists.

Cause

• People who develop Krabbe disease lack an enzyme called galactocerebrosidase, or GALC, that plays a key role in forming the myelin sheath that protects nerve tissues. The GALC deficiency arises from irregularities in the 14q31 chromosome that pass from parents to children. Genetic testing can identify which parents have a risk for having a child who develops Krabbe disease.

Symptoms

• Symptoms of Krabbe disease do not appear at birth for infants who develop the condition. Babies who do have Krabbe disease will stop eating, lose control of their heads, become spastic and progressively lose their vision and hearing. Less-specific symptoms of infantile Krabbe disease include extreme irritability, constant crying and vomiting.
  When Krabbe disease first appears during childhood or adulthood, people will find it increasingly difficult to walk, slowly lose their eyesight and become more and more uncoordinated. These impairments progress to blindness and paralysis.

Treatments

• Infants with Krabbe disease may benefit from receiving transfusions of umbilical cord blood from babies to whom they are not related. Older Krabbe disease patients have shown improvement after receiving bone marrow transplants, also from non-family members. These treatments do not cure Krabbe disease, however. As a National Institute of Neurological Disorders and Stroke fact sheet notes, "Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation."

Prevalence

• Krabbe disease occurs very rarely. A review of research into the condition prepared for the National Institutes of Health notes that only about 1 of every 100,000 Americans gets diagnosed with Krabbe disease. Of the individuals with Krabbe disease, between 85 percent and 95 percent develop the condition before they reach the age of 2 years.

Prognosis

• Almost every infant with Krabbe disease dies before reaching 2 years. The 10 to 15 percent of children who develop Krabbe disease can live for several years following diagnosis, but the condition will shorten their lives.