What is Krabbe disease
Krabbe disease is a devastating genetic disorder that damages the brain and nerves. People with Krabbe disease do not make enough of an enzyme called galactocerebrosidase (also called galactosylceramidase, or GALC) due to changes or mutations in the galactosylceramidase (GALC) gene. Without enough of this enzyme, complex fatty substances called psychosine and galactocerebroside, build up in the nerve tissues of the body. In large amounts these substances are poisonous to the cells of the body that make myelin, a covering or "sheath" that coats, protects, and insulates nerves. Collectively, myelin-covered nerve fibers are known as the white matter. Krabbe disease slowly damages the white matter of the brain and the rest of the central nervous system (brain and spinal cord). The white matter of the nerves outside the central nervous (the peripheral nervous system) is also affected. The loss of myelin is called demyelination. There is a range of severity in Krabbe disease. In the most severe or infantile form of Krabbe disease, most babies develop symptoms in the first year of life with noticeable symptoms and brain damage happening in the first six months of age. Babies with the infantile form gradually lose the ability to sit up, babble, smile, and see. The babies often pass away within 2-3 years of age. Less often, Krabbe disease does not appear until later in childhood, adolescence, or even in adulthood. The age when symptoms first appear, the health problems that develop, and the rate at which the disorder gets worse can vary in different people. Except for a few well understood infantile forms of Krabbe, it can be very difficult to tell what health problems a person will have simply from their genetic changes (mutations). A treatment option called hematopoietic stem cell transplantation (HSCT) before health problems and damage to the brain and nerves has happened is used to treat some people with Krabbe disease. The decision to have a HSCT has pros and cons because it does not completely prevent any further damage. If you are considering HSCT for Krabbe disease, it is important to discuss the risks and benefits with a healthcare provider who has experience treating Krabbe disease.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/krabbe-disease/overview/6261 • DATE UPDATED: 2016-06-23
Wenger DA, Luzi P. Krabbe Disease: Globoid Cell Leukodystrophy. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.
Wenger DA. Krabbe Disease. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1238/ Updated March 31, 2011. Accessed March 29, 2016.