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Krabbe Disease

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

By

Matt Demczko

, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia

Last full review/revision Dec 2021| Content last modified Dec 2021
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

  • Bone marrow or stem cell transplantation for certain forms

There is no cure for Krabbe disease. However, a stem cell transplantation or a bone marrow transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more can improve the functional abilities and lengthen the life span of infants who have certain forms of Krabbe disease.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

NOTE: This is the Consumer Version. DOCTORS: CLICK HERE FOR THE PROFESSIONAL VERSION
CLICK HERE FOR THE PROFESSIONAL VERSION
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