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Science 30 October 1970:
Vol. 170. no. 3957, pp. 556 - 558
DOI: 10.1126/science.170.3957.556
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Articles

Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

Glyn Dawson 1 and Arthur O. Stein 1

1 Departments of Pediatrics and Biochemistry, Joseph P. Kennedy, Jr., Mental Retardation Research Center, University of Chicago, Chicago, Illinois 60637

A 3-year-old Negro female showed clinical evidence of a neurovisceral storage disorder that has been characterized by the specific elevation of lactosyl ceramide in erythrocytes, plasma, bone marrow, urine sediment, liver biopsy, and brain biopsy. A galactosyl hydrolase deficiency was demonstrated by the inability to cleave lactosyl ceramide labeled with tritium in the terminal galactose. The enzyme deficiency may be the primary cause of this previously unreported sphingolipidosis.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
H. Hulkova, M. Cervenkova, J. Ledvinova, M. Tochackova, M. Hrebicek, H. Poupetova, A. Befekadu, L. Berna, B.C. Paton, K. Harzer, et al. (2001)
Hum. Mol. Genet. 10, 927-940
   Abstract »    Full Text »    PDF »
Clinical, Pathologic, and Neurochemical Studies of an Unusual Case of Neuronal Storage Disease With Lamellar Cytoplasmic Inclusions: A New Genetic Disorder?.
A. L. Rose, P. M. Farmer, N. Mitra, K. E. Wisniewski, and R. K. Pullarkat (1999)
J Child Neurol 14, 123-129
   Abstract »    PDF »
Biochemical Genetics in Neurology.
R. O. Brady (1976)
Arch Neurol 33, 145-151
   Abstract »    PDF »
Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases.
D. Wenger, M Sattler, C Clark, H Tanaka, K Suzuki, and G Dawson (1975)
Science 188, 1310-1312
   Abstract »    PDF »
The Lipid Storage Diseases: New Concepts and Control.
R. O. BRADY (1975)
Ann Intern Med 82, 257-261
   Abstract »    PDF »
Antenatal Diagnosis and Therapeutic Trends in Sphingolipidoses.
L. Schneck, D. Amsterdam, and B. W. Volk (1974)
JAMA 228, 615-618
   Abstract »    PDF »
Macular Cherry-Red Spot, Corneal Clouding, and {beta}-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease.
M. F. Goldberg, E. Cotlier, L. G. Fichenscher, K. Kenyon, R. Enat, and S. A. Borowsky (1971)
Arch Intern Med 128, 387-398
   Abstract »    PDF »


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Science. ISSN 0036-8075 (print), 1095-9203 (online)