globoid cell leukodystrophy
Definition: 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 ß-galactosidase); autosomal recessive inheritance, caused by mutation in the gene encoding glycosylceramidase (GALC) on 14q.
Synonym(s): diffuse infantile familial sclerosis, galactosylceramide lipoidosis, Krabbe disease
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