Abstract
A 4 2/12-year old girl with fucosidosis was described who is the first documented case in Japan. Itwas noted that a-L-fucosidase activity was completly absent in liver tissue, white blood cells, andcultured skin fibroblasts.
In the liver tissue obtained by biopsy, fucose rich glycolipids as well as glycoprotein was found tobe markedly increased, whereas amounts of acid mucopolysaccharide estimated as uronic acid contentwas only slightly elevated.
Amounts of α-L-fucosidase activity in white blood cells from parents were within normal range.However, the calculated ratio of α-L-fucosidase to α-D-mannosidase activity of the parents was intermediate between that of the affected patient and the control. This result might suggest that the parentsare phenotypically normal heterozygote and the disease is transmitted as an autosomal recessivetrait.
