Fucosidosis: diagnosis of five patients and carrier detection.
The clinical and biochemical data of the two original cases of fucosidosis type I and of three other type II are reported. Of less than forty patients affected with fucosidosis, described in the literature, seven belong to two pedigree originating from a small, isolated area of the Southern Italian region of Calabria. All the affected children were born from first cousin marriages. Clinical heterogeneity has been observed inside both pedigrees and some patients show angiokeratoma while others do not.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D010375:Pedigree; D005644:alpha-L-Fucosidase / Q000097:blood / Q000172:deficiency*
D005643:Fucose; D005644:alpha-L-Fucosidase