Krabbe's disease: globoid cell leukodystrophy.
The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism.
D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005696:Galactosidases / Q000032:analysis; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology; D008297:Male; D011877:Radionuclide Imaging; D013107:Sphingolipids / Q000378:metabolism
D013107:Sphingolipids; D005696:Galactosidases