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Fucosidosis is a newly recognized inborn error of me tabo l i sm invo lv ing the accumula t ion o f fucolipids, fucoglycoproteins , a n d fucornucopolysacchar ides . T h r e e families h a v e been repor ted in the l i t e ra ture (1, 2). 1 T h e enzymic defect in fucosidosis has been es tabl ished by Van Hoof and Hers (3) as a specific, near ly comple te deficiency of the enzyme ~-L-fucosidase. Thusfar , no reports h a v e appeared in which ~-fucosidase has been shown to be deficient in cu l tu red skin f ibroblasts f rom affected pat ients , nor have no rma l va lues been given for the ac t iv i ty of the enzyme in amnio t ic cells. I n this s t udy we demons t r a t e deficiency of a-fucosidase in cu l tu red skin f ibroblasts f rom two bro thers wi th fucosidosis and give normal va lues for the ac t i v i t y of c~-fucosidase in amniot ic cells.

FUCOSIDOSIS: DEFICIENCY OF ALPHA-L-FUCOSIDASE IN CULTURED SKIN FIBROBLASTS