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Science 27 June 1975:
Vol. 188. no. 4195, pp. 1310 - 1312
DOI: 10.1126/science.1145196
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Articles

Science, Vol 188, Issue 4195, 1310-1312
Copyright © 1975 by American Association for the Advancement of Science

articles

Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases

DA Wenger, M Sattler, C Clark, H Tanaka, K Suzuki, and G Dawson

Lactosyl ceramide beta-galactosidase activities in the fibroblasts from the previously described patient with so-called "lactosyl ceramidosis" were reexamined with the two recently developed assay methods which appear to measure two genetically distinct enzymes that can degrade this substrate. No deficiency of either of the lactosyl ceramide-cleaving enzymes was observed. In addition, sphingomyelinase activity was only one-sixth of normal, while all other enzymes examined were within the normal ranges.


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 »
Niemann-Pick disease: a genetic model in Siamese cats.
D. Wenger, M Sattler, T Kudoh, S. Snyder, and R. Kingston (1980)
Science 208, 1471-1473
   Abstract »    PDF »
Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American Children: Juvenile Variant of Niemann-Pick Disease With Foamy and Sea-Blue Histiocytes.
D. A. Wenger, G. Barth, and J. H. Githens (1977)
Arch Pediatr Adolesc Med 131, 955-961
   Abstract »    PDF »
Biochemical Genetics in Neurology.
R. O. Brady (1976)
Arch Neurol 33, 145-151
   Abstract »    PDF »


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