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glo·boid cell leu·ko·dys·tro·phy[MIM*245200]
a metabolic disorder of infancy or early childhood characterized by spasticity, seizures, and rapidly progressive cerebral degeneration, massive loss of myelin, severe astrocytic gliosis, and infiltration of the white matter with characteristic multinucleate globoid cells; metabolically there is gross deficiency of lysosomal cerebrosidase (galactosylceramide β-galactosidase); autosomal recessive inheritance, caused by mutation in the gene encoding glycosylceramidase (GALC) on 14q.
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[Knud H. Krabbe, Danish neurologist, 1885–1961]
Globoid cell leukodystrophy due to the accumulation of galactocerebroside in the tissues, resulting from a deficiency of galactocerebrosidase. Clinically, affected infants develop seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. Survival beyond 2 years is rare.
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Krabbe,Knud Haraldsen, Danish neurologist, 1885-1961.
Christensen-Krabbe disease - see under Christensen
Krabbe disease - a metabolic disorder of infancy. Synonym(s): globoid cell leukodystrophy
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