Fucosidosis in a native born Briton

Abstract

This investigation reports the biochemical findings in a native born Briton suffering from the adult form of fucosidosis. α L fucosidase, α L iduronidase, and β D galactosidase were studied in cultured fibroblasts and leucocytes from the patient with fucosidosis, her maternal grandfather, and several normal controls. A complete lack of α L fucosidase activity was found in the patient's fibroblasts and leucocytes while the grandfather exhibited a heterozygous level of α 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 α 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.