Corneal clouding in GM1-generalized gangliosidosis.
Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.
D002648:Child; D003318:Corneal Opacity / Q000150:complications*; D005260:Female; D005696:Galactosidases / Q000172:deficiency; D005733:Gangliosidoses / Q000150:complications*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008059:Mucopolysaccharidosis I / Q000150:complications
D005696:Galactosidases