Krabbe disease

Judy Handly

Krabbe disease, also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is an autosomal-recessive sphingolipidosis caused by deficient activity of the lysosomal hydrolase galactosylceramide beta-galactosidase (GALC). GALC degrades galactosylceramide, a major component of myelin, and other terminal beta-galactose–containing sphingolipids, including psychosine (galactosylsphingosine). Increased psychosine levels are believed to lead to widespread destruction of oligodendroglia in the CNS and to subsequent demyelination. There is no cure for Krabbe disease. However, the following treatments may be given to patients to help alleviate their symptoms: anticonvulsant medication to stop seizures, muscle relaxer drugs (to help ease muscle spasms), physical therapy to help slow deterioration of muscles, occupational therapy to help older children with common tasks, such as getting dressed and eating.

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