Article Text

PDF

Fucosidosis in a native-born Briton.
  1. P P Dos Santos,
  2. R W Logan

    Abstract

    This investigation reports the biochemical findings in a native-born Briton suffering from the adult form of fucosidosis. Alpha-L-fucosidase, alpha-L-iduronidase, and beta-D-galactosidase were studied in cultured fibroblast and leucocytes from the patient with fucosidosis, her maternal grandfather, and several normal controls. A complete lack of alpha-L-fucosidase activity was found in the patient's fibroblasts and leucocytes while the grandfather exhibited a heterozygous level of alpha-L-fucosidase activity in his leucocytes. Excessive excretion of what is very likely to be a fucose-containing sphingolipid was demonstrated in the patient's urine by thin-layer chromatography. Compared with five isoenzyme forms of alpha-L-fucosidase activity in normal leucocytes, cellulose acetate electrophoresis of the patient's leucocytes produced evidence of a single band of slight activity associated with one of the isoenzymes. This residual activity probably accounts for the survival of such patients into adolescence and beyond.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.