Other Names for this Disease
- Galactocerebrosidase deficiency
- Galactosylceramidase deficiency
- Galactosylceramide beta-galactosidase deficiency
- GALC deficiency
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Krabbe disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 7/5/2015
- David A Wenger, PhD. Krabbe Disease. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1238/#krabbe.Clinical_Description.