Krabbe

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath, a protective covering of nerve cells in the brain and throughout the nervous system. It is part of a group of disorders known as leukodystrophies, which result from the loss or destruction of myelin. Krabbe disease is caused by mutations in the GALC gene.

Symptoms

The symptoms of Krabbe disease usually begin before the age of 1 year (in what is known as the infantile form), and may include feeding difficulties, episodes of fever without any sign of infection, stiffness, and developmental regression. In the later-onset forms of Krabbe disease (which are much rarer), symptoms may begin in childhood, adolescence, or adulthood and are usually milder and progress more slowly than in the infantile form. These symptoms may include muscle weakness, vision problems, walking difficulties, and intellectual decline.

Causes

Krabbe disease is caused by mutations in the GALC gene. This gene provides instructions for making an enzyme called galactosylceramidase, which is necessary for the normal development and maintenance of myelin. Mutations in the GALC gene lead to a shortage (deficiency) of galactosylceramidase, which causes certain fats to build up to toxic levels in the brain and other areas of the body, leading to the signs and symptoms of Krabbe disease.

Diagnosis

Krabbe disease is diagnosed based on the clinical symptoms, a physical examination, and confirmed through laboratory testing. Laboratory testing can include genetic testing to look for mutations in the GALC gene, and enzyme analysis to look for a deficiency of galactosylceramidase.

Treatment

There is currently no cure for Krabbe disease, but treatment is focused on managing the symptoms. This can include physical therapy to help with muscle stiffness and feeding difficulties, and medications to manage pain and seizures. In some cases, a bone marrow transplant or cord blood transplant may be done early in the disease process.

See also

• Leukodystrophy
• GALC
• Myelin

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