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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Krabbe disease


Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
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Your Question

If a couple has a child with Krabbe leukodystrophy, what is the likelihood of having another child with the condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Krabbe disease inherited?

Krabbe disease is inherited in an autosomal recessive manner.[1] 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

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.