Is it possible to be a carrier of Krabbe disease and have symptoms?
To our knowledge, there are no published reports of carriers of Krabbe disease having symptoms of the disease. Krabbe disease is autosomal recessive, which means that a person must have a mutation in both copies of the responsible gene to have signs and symptoms. Carriers have a mutation in one copy of the responsible gene and are not at risk of developing the disease.
Confirming carrier status for someone with a family history of Krabbe disease requires knowing the exact mutation(s) in the affected family member, and having genetic testing for those mutations. Carrier testing by measuring GALC enzyme activity is not reliable because of the wide range of activity seen in both carriers and non-carriers. Although some parents of affected children have quite low GALC enzyme activity measured in vitro, none have had signs or symptoms.
If you have questions about carrier testing for Krabbe disease or about personal genetic test results, we recommend speaking with a genetic counselor or other genetics professional.
Last updated: 4/3/2017
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