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Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.
The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures.
Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.
In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.
Mutations in the GALC gene cause Krabbe disease.
Mutations in the GALC gene cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
'''Krabbe disease''' is a degenerative disorder that affects the central and peripheral nervous system. This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000 to 200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel. Krabbe disease is caused by mutations in the GALC gene, which causes a shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in a shortage of myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression. Although there is no cure for Krabbe disease, 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. ''Science News'' reported in its May 21, 2005 issue that Umbilical cord blood bank transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. [http://sciencenews.org/articles/20050521/fob2ref.asp] Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for the disease. ''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] and ... [ Read More ]
Family Village / Library / Leukodystrophy - Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease.
Krabbe Disease - A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Hunter's Hope Foundation - Formed in honor of infant son, Hunter, who was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). Supports research on this and other leukodystrophies. Includes disease information, family registry, and other resources.