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Krabbe disease
Definition:
Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylcereamidase). Deficiency of this enzyme causes the death of brain cells, a process that underlies the symptoms seen in Krabbe. Alternative Names:
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Text Continues Below
Causes, incidence, and risk factors:
Krabbe disease is inherited as an autosomal recessive trait. It is most common 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 myelinated neurons. This results in progressive destruction of the nervous system. Krabbe disease 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. Seizures may begin very early and are severe. Visual and hearing losses are progressive. Affected children eventually assume an unusual, rigid 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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