Krabbe disease

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

There is no specific treatment for Krabbe disease. Bone marrow transplantation (with its own risks) has been attempted in early stages of the disease.

In the future there may be enzyme replacement therapy, but it is in the early stages of development as of 2003. Prevention by prenatal or genetic testing is available.

United Leukodystrophy Foundation -- (800) 728-5483

The outcome is likely to be poor. On average, infantile-onset cases die before 2 years of age. Later-onset cases have survived into adulthood with neurologic disease.

Progressive central nervous system degeneration occurs. Blindness, deafness, and severe disturbances of muscle tone can result. The disease is usually fatal.

Call your health care provider if your child develops symptoms of this disorder. Seizures, loss of consciousness, or abnormal posturing may be emergency symptoms. Call a genetic counselor if there is a family history of Krabbe disease.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.