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Krabbe disease   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency

Definition:

Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (i.e., galactosylcereamidase) and resulting in destruction of myelin (a fatty material that surrounds and insulates many of the nerves).

Causes and Risks

Krabbe disease is inherited as an autosomal recessive trait. It has a higher incidence among people of Scandinavian descent, but it generally affects about 1 in 150,000 infants. Absence of the enzyme galactocerebroside beta-galactosidase causes increasing destruction of myelin. The end result is a progressive destruction of the nervous system.

Krabbe disease, like many other storage diseases, has an early onset form and a late onset form. In the early form, symptoms begin in the first months of life with feeding problems and failure to thrive, unexplained fevers, and vomiting.

Changes in muscle tone are frequent, and seizures may begin very early, and are severe. Visual and hearing losses are progressive. Affected children eventually assume a rigid unusual body position called decerebrate posturing. Death follows shortly thereafter, usually before the second year of life.

The late onset form of the disease begins in late childhood or early adolescence. Visual problems progressing to blindness may be the first symptom. Gait disturbance (ataxia) and muscle rigidity lead to progressive disability.

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