Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.  It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells.  Krabbe disease is one of a group of genetic disorders called the leukodystrophies.  These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills.  Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes.  Each of the leukodystrophies affects one (and only one) of these substances.  Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development.  Other symptoms include muscle weakness, spasticity, deafness, and blindness. There is no cure for Krabbe disease. Results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment.  Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow.  Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease.  Generally, treatment for the disorder is symptomatic and supportive.  Physical therapy may help maintain or increase muscle tone and circulation. Infantile Krabbe disease is generally fatal before age 2.  Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation.  Persons with juvenile- or adult-onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer. The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research on the lipid storage diseases in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=leukodystrophy+globoid+cell+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years http://www.nlm.nih.gov/medlineplus/leukodystrophies.html 1 http://clinicaltrials.gov/ct2/results?term= /disorders/krabbe/pubs_krabbe.htm /disorders/krabbe/xml_krabbe.xml xml_krabbe.xml Globoid Cell Leukodystrophy V155 United Leukodystrophy Foundation

2304 Highland Drive

Sycamore IL 60178 office@ulf.org http://www.ulf.org 815-895-3211 800-728-5483 815-895-2432 Nonprofit voluntary health organization dedicated to providing patients and their families with information; assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness, and acting as an information source for health care providers. Promotes supports research into causes, treatments, and prevention of the leukodystrophies. V782 Hunter's Hope Foundation [A Leukodystrophy Resource]

P.O. Box 643

Orchard Park NY 14127 info@huntershope.org http://www.huntershope.org 716-667-1200 877-984-HOPE (-4673) 716-667-1212 Fosters awareness about Krabbe disease and other leukodystrophies, works to promote early detection through newborn screening, provides information and service linkages to families, and funds research efforts to identify new treatments and therapies, and ultimately, a cure. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. V303 Myelin Project

P.O. Box 39

Pacific Palisades CA 90272 info@myelin.org http://www.myelin.org 800-869-3546 310-459-1071 310-230-4298 Aims to accelerate research on repair of myelin, the white matter insulating the nerves, which can be destroyed by hereditary metabolic disorders, such as the leukodystrophies, and acquired disorders, such as multiple sclerosis.