Who Discovered Krabbe Disease?

Krabbe disease is a rare genetic disorder that results from a shortage of an enzyme called galactocerebrosidase, which leads to the production of toxins in the brain and neurological impairment. The disease is named after the Danish neurologist Knud Krabbe who first diagnosed infants with this condition in the early 1900s. The disease is most prevalent in infants between the ages of 3 to 6 months, which is known as infantile Krabbe disease. Late infantile Krabbe disease is diagnosed between the ages of 6 months to 3 years old. Juvenile Krabbe disease strikes between the ages of 3 to 8. Adult-onset Krabbe disease arises after the age of 8.

Krabbe disease will often be diagnosed within the first 12 months.

History

Krabbe disease can be traced back to 1916 when Krabbe first diagnosed infants with the disorder. Krabbe researched five infants from two families who had dramatic episodes of crying and irritability before they were 6 months old. The babies later developed spasms brought on by light, noise and touch. Before they were 2 years old, all the infants passed away. Krabbe specified the cells in the brain lacking proper enzymes, and the disease was named after him.

Significance

One of every 100,000 deliveries in the United States results in a baby born with Krabbe disease, according to Hunter's Hope Foundation, which was founded by former NFL quarterback Jim Kelly and his wife Jill to provide research and information on Krabbe disease. Nearly two million people are carriers of the genetic deficiency that is responsible for the condition. No cure exists for this rare disease.

Effects

Effects of Krabbe disease include delays in development, seizures, irritability, loss of the ability to control muscles and a decline of the eye muscle. The National Institute of Neurological Disorders and Stroke reports that infants who contract the disease are most likely to die before the age of 2.

Misconceptions

In the early stages of Krabbe disease, infants have trouble feeding, experience seizures, and cry excessively. It is common for babies at this phase to be misdiagnosed with conditions such as colic, reflux, food allergies and cerebral palsy. .

Prevention/Solution

While no cure presently exists, the National Institute of Neurological Disorders and Strokes states that in some cases in which patients with the genetic deficiency received umbilical-cord-blood stem cells from donors before symptoms appeared, the stem-cell recipients developed minor neurological damage. Bone marrow transplants are effective in mild cases. Treatment is mostly supportive and physical therapy can improve muscle tone and circulation.

References

• Krabbe Disease
• Hunter's Hope Foundation
• Lysosomal Storage Disorders; John A. Barranger, Mario A. Cabrera-Salazar; 2007