Krabbe disease - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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04/12/2013

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Krabbe disease

Krabbe disease (also called Globoid Cell Leukodystrophy or GLD) is an autosomal recessive condition resulting from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme that catabolizes a major lipid component of myelin.

It is characterized by infantile-onset progressive neurologic deterioration and death before age two years (85%-90% of individuals) or by onset between age one year and the fifth decade with slower disease progression (10%-15%).

The deficiency in beta-galactocerebrosidase results in the accumulation of the nonmetabolized lipids substrates cerebroside and psychosine, constituent almost exclusively of myelin and myelinating cells. The more rapid oligodendrocyte cell death observed in GLD seems related to psychosin toxicity.

For detailed information about Krabbe disease, read the corresponding review on the NCBI website (National Centre for Biotechnology Information).