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.

Science 28 April 1972:
Vol. 176. no. 4033, pp. 426 - 427
DOI: 10.1126/science.176.4033.426
Prev | Table of Contents | Next

Articles

Deficiency of agr-L-Fucosidase

Vimalkumar Patel 1, Itaru Watanabe 1, and Wolfgang Zeman 1

1 Department of Neuropathology, Indiana University Medical Center, Indianapolis 46202

A new form of agr-L-fucosidase deficiency has been found in a 20-year-old severely retarded male. Additional signs include angiokeratoma corporis diffusum and anhydrosis. The skin lesion is due to an accumulation of residual bodies, presumably containing oligosaccharides and glycoproteins, in endothelial cells and fibrocytes. The enzyme activity in blood relatives indicates that the disease is inherited as a simple autosomal recessive trait that segregates according to Mendelian principles. Because the enzyme activity in the heterozygotes was consistently below that of normal controls, the carriers of the trait in this family could be ascertained.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Angiokeratoma Corporis Diffusum With {alpha}-L-Fucosidese Deficiency.
W. W. Epinette, A. L. Norins, A. L. Drew, W. Zeman, and P. Vimalkumar (1973)
Arch Dermatol 107, 754-757
   Abstract »    PDF »


To Advertise     Find Products

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