Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.
DNA Star, Inc.

Site Tools

  • AAAS
  • Subscribe
  • Feedback

Site Search

Search Advanced

Science 30 October 1970:
Vol. 170. no. 3957, pp. 556 - 558
DOI: 10.1126/science.170.3957.556
Prev | Table of Contents | Next

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 »
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 »


ADVERTISEMENT
Click Me!

ADVERTISEMENT
Click Me!

To Advertise     Find Products

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