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Krabbe Disease

(Krabbe's Disease; Galactosylceramide Lipidosis; Globoid Cell Leukodystrophy)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
Click here for the Professional Version
  • Krabbe disease occurs when the body lacks enzymes needed to break down fats (lipids).

  • Symptoms may include paralysis, intellectual disability, and blindness.

  • The diagnosis is based on the results of prenatal screening tests and newborn screening tests.

  • This disease causes premature death.

  • This disease cannot be cured, but a bone marrow transplant may help some children.

Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Krabbe disease:

In Krabbe disease, an enzyme needed to break down lipids, called cerebroside beta-galactosidase, is not working correctly. These lipids build up and affect the growth of the tissues that wrap around nerves, called the myelin sheath.

Krabbe disease occurs in some people in childhood or adulthood. Symptoms are similar to those in infants, but the progression is slower.

Diagnosis of Krabbe Disease

Treatment of Krabbe Disease

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