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GloboidCell Posts: 4
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Krabbe disease is an autosomal recessive sphingolipidosis caused by wrongfull 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 probably lead to widespread destruction of oligodendroglia in the CNS and to subsequent demyelination.1,2 Numerous cases of Krabbe disease have been documented, that show a wide distribution in age of onset. In Krabbe disease there are the following four clinical subtypes which are distinguished by age of onset: * Type 1 - Infantile * Type 2 - Late infantile * Type 3 - Juvenile * Type 4 - Adult |
