Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.
D000328:Adult; D001921:Brain / Q000201:enzymology; D002518:Ceramides; D005260:Female; D005690:Galactose; D005696:Galactosidases / Q000097:blood / Q000378:metabolism*; D005732:Gangliosides; D006801:Humans; D007223:Infant; D007785:Lactose; D007965:Leukodystrophy, Globoid Cell / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology; D008064:Lipidoses / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology; D012867:Skin / Q000201:enzymology; D013154:Spleen / Q000201:enzymology; D013577:Syndrome
D002518:Ceramides; D005732:Gangliosides; D005696:Galactosidases; D007785:Lactose; D005690:Galactose