Fucosidosis.
Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.
D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency*; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D004186:Disaccharidases; D005644:alpha-L-Fucosidase