Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.
A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase.
D000293:Adolescent; D003316:Corneal Diseases / Q000201:enzymology / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency* / Q000378:metabolism; D005733:Gangliosidoses / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D011859:Radiography; D012867:Skin / Q000201:enzymology
D005696:Galactosidases