Krabbe disease

Krabbe disease (also known as globoid cell leukodystrophy) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel.

Related Topics:
Nervous system - Autosomal recessive - Israel

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Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. This enzyme deficiency results in a shortage of myelin, the covering that insulates many nerves. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.

Related Topics:
Mutation - GALC - Gene - Enzyme - Myelin - Nerve - Leukodystrophies

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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.

Related Topics:
Fever - Seizure - Vomit

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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 cord blood 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

Related Topics:
Bone marrow - Transplantation - Physical therapy - Muscle - Science News - Cord blood

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Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for the disease, following the diagnosis of his son, Hunter, with Krabbe disease in 1997. Hunter Kelly died of the disease August 5, 2005 at the age of 8. He was the longest-living survivor of infantile Krabbe disease.

Related Topics:
Buffalo Bills - Jim Kelly - August 5 - 2005

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This article incorporates public domain text from The U.S. National Library of Medicine and the National Institute of Neurological Disorders and Stroke.

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