The gene mutation associated with Krabbe disease only causes the disease if two mutated copies of the gene are inherited. A disease resulting from two mutated copies is called an autosomal recessive disorder.
If each parent has one mutated copy of the gene, the risk for a child would be as follows:
- A 25 percent chance of inheriting two mutated copies, which would result in the disease
- A 50 percent chance of inheriting only one mutated copy, which would result in the child being a carrier of the mutation but would not result in the disease itself
- A 25 percent chance of inheriting two normal copies of the gene
Genetic testing to understand the risk of having a child with Krabbe disease may be considered in certain situations:
- If one or both parents are likely carriers of a GALC gene mutation because of a known family history of Krabbe disease, a couple may want to have tests to understand the risks in their own family.
- If one child is diagnosed with Krabbe disease, a family may consider genetic tests to identify other children who could develop the disease later in life.
- If the parents are known carriers, they may request a prenatal genetic test to determine if their child is likely to develop the disease.
- Known carriers, who are using in vitro fertilization, may request a genetic test with fertilized eggs before implantation.
Genetic testing should be carefully considered. Ask your doctor about genetic counseling services that can help you understand the benefits, limits and implications of genetic testing.
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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