Your doctor will conduct a general physical exam and assess signs and symptoms that may indicate a neurological disease. A diagnosis of Krabbe disease is based on a series of tests, which may include the following.
A blood sample and small skin sample (biopsy) will be sent to a laboratory to assess the level of GALC enzyme activity. Very low or no GALC activity level may indicate Krabbe disease.
Although the results help a doctor make a diagnosis, they don't provide evidence of how quickly the disease may progress. For example, very low GALC activity doesn't always mean that the condition will advance rapidly.
Your doctor may order one or more imaging tests that can detect the loss of myelin (demyelination) in affected regions of the brain. These may include:
- Magnetic resonance imaging (MRI), a technology that uses radio waves and a magnetic field to produce detailed 3-D images
- Computerized tomography (CT), a specialized X-ray technology that produces 2-D images
Nerve conduction study
A nerve conduction study assesses the rate at which nerves conduct a signal — essentially how quickly can they send a message. A special device measures the time it takes an electrical impulse to travel from one point on the body to another. When myelin is impaired, nerve conduction is slower.
A genetic test may be done with a blood sample to confirm a diagnosis. There are variant forms of the mutated gene that results in Krabbe disease. The particular type of mutation may provide some clues regarding the expected course of the disease.
In some states, a screening test for Krabbe disease is part of a standard set of assessments for newborns. The initial screening test measures GALC enzyme activity. If the enzyme activity is found to be low, follow-up GALC tests and genetic tests are conducted.
The use of newborn screening tests is relatively new. Researchers are still working to understand how best to use these tests, how well the tests lead to an accurate diagnosis and how well they predict the course of the disease.
June 03, 2014
- Miranda CO, et al. Advances and pitfalls of cell therapy in metabolic leukodystrophies. Cell Transplantation. 2013;22:189.
- Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed Feb. 28, 2014.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed Feb, 28. 2014.
- Ropper AH, et al. Adams & Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): Update. Journal of Child Neurology. 2003;18:595.
- Krabbe disease. United Leukodystrophy Foundation. http://ulf.org/krabbe-disease. Accessed Feb. 28, 2014.
- Kohlschutter A, et al. Childhood leukodystrophies: A clinical perspective. Expert Review of Neurotherapeutics. 2011;11:1485.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf. Accessed March 10, 2014.
- Duffner PK, et al. Early infantile Krabbe disease: Results of the World-Wide Krabbe Registry. Pediatric Neurology 2011;45:141.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2010;12:539.
- Duffner PK, et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genetics in Medicine. 2009;11:450.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. April 1, 2014.
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