Other Names for this Disease
- Galactocerebrosidase deficiency
- Galactosylceramide beta-galactosidase deficiency
- GALC deficiency
Tests & Diagnosis
A diagnosis of Krabbe disease may be suspected based on the presence of characteristic signs and symptoms or in certain states of the United States, due to an abnormal newborn screen. Additional testing can then be ordered to confirm the diagnosis. This testing generally includes a blood test and/or skin biopsy to evaluate the levels of galactosylceramidase, the enzyme that is low in people with Krabbe disease. Genetic testing for changes (mutations) in the GALC gene can also confirm the diagnosis.
Last updated: 7/5/2015
- Wenger DA. Krabbe Disease. GeneReviews. March 31, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1238/#krabbe.Clinical_Description. Accessed 10/8/2015.
- Robert P Cruse, DO. Krabbe disease. UpToDate. February 2014; Accessed 7/2/2015.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.